Canonical Allele Identifier: CA402174504

Gene: DTNA

Linked Data

• dbSNP Id: rs1282732697
• gnomAD v2: 18-32431825-A-T
• gnomAD v4: 18-34851861-A-T
• MyVariant Identifiers: chr18:g.32431825A>T (hg19) ; chr18:g.34851861A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.34851861A>T , CM000680.2:g.34851861A>T	GRCh38
NC_000018.9:g.32431825A>T , CM000680.1:g.32431825A>T	GRCh37
NC_000018.8:g.30685823A>T	NCBI36
NG_009201.1:g.363572A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283365.14:c.1204A>T	ENSP00000283365.10:p.Ile402Phe
ENST00000444659.6:c.1465A>T MANE Select	ENSP00000405819.2:p.Ile489Phe
ENST00000601632.6:c.328A>T	ENSP00000507080.1:p.Ile110Phe
ENST00000680767.2:c.1006A>T	ENSP00000505379.2:p.Ile336Phe
ENST00000682129.1:c.421A>T	ENSP00000506763.1:p.Ile141Phe
ENST00000682483.1:c.1204A>T	ENSP00000508159.1:p.Ile402Phe
ENST00000682581.1:c.928A>T	ENSP00000507924.1:p.Ile310Phe
ENST00000682923.1:c.928A>T	ENSP00000508131.1:p.Ile310Phe
ENST00000683370.1:c.1204A>T	ENSP00000507104.1:p.Ile402Phe
ENST00000683379.1:c.1213A>T	ENSP00000507995.1:p.Ile405Phe
ENST00000683705.1:c.1204A>T	ENSP00000507911.1:p.Ile402Phe
ENST00000683876.1:c.250A>T	ENSP00000507423.1:p.Ile84Phe
ENST00000684228.1:c.250A>T	ENSP00000508278.1:p.Ile84Phe
ENST00000684266.1:c.1294A>T	ENSP00000507106.1:p.Ile432Phe
ENST00000684359.1:c.1213A>T	ENSP00000507300.1:p.Ile405Phe
ENST00000684377.1:c.1009A>T	ENSP00000506757.1:p.Ile337Phe
ENST00000598774.6:c.1213A>T	ENSP00000472031.1:p.Ile405Phe
ENST00000679372.1:c.*1305A>T	ENSP00000506098.1:n.*1305A>T
ENST00000679678.1:c.511A>T	ENSP00000505120.1:p.Ile171Phe
ENST00000679796.1:c.1465A>T	ENSP00000506659.1:p.Ile489Phe
ENST00000679936.1:c.1213A>T	ENSP00000506586.1:p.Ile405Phe
ENST00000680346.1:c.1213A>T	ENSP00000505947.1:p.Ile405Phe
ENST00000680767.1:c.1252A>T	ENSP00000505379.1:p.Ile418Phe
ENST00000680822.1:c.1294A>T	ENSP00000505718.1:p.Ile432Phe
ENST00000681241.1:c.1204A>T	ENSP00000506495.1:p.Ile402Phe
ENST00000681274.1:c.919A>T	ENSP00000505183.1:p.Ile307Phe
ENST00000681470.1:c.1201A>T	ENSP00000505722.1:p.Ile401Phe
ENST00000681759.1:c.364A>T	ENSP00000506633.1:p.Ile122Phe
ENST00000269192.11:c.511A>T	ENSP00000269192.7:p.Ile171Phe
ENST00000283365.13:c.1213A>T	ENSP00000283365.9:p.Ile405Phe
ENST00000348997.9:c.1375A>T	ENSP00000336682.4:p.Ile459Phe
ENST00000399113.7:c.1384A>T	ENSP00000382064.3:p.Ile462Phe
ENST00000399121.9:c.1204A>T	ENSP00000382072.5:p.Ile402Phe
ENST00000444659.5:c.1384A>T	ENSP00000405819.1:p.Ile462Phe
ENST00000556414.7:c.340A>T	ENSP00000452255.2:p.Ile114Phe
ENST00000587723.1:c.181A>T	ENSP00000468262.1:p.Ile61Phe
ENST00000591182.5:c.328A>T	ENSP00000467720.1:p.Ile110Phe
ENST00000595022.5:c.1204A>T	ENSP00000473078.1:p.Ile402Phe
ENST00000596745.5:c.634A>T	ENSP00000469121.1:p.Ile212Phe
ENST00000597599.5:c.1204A>T	ENSP00000473119.1:p.Ile402Phe
ENST00000597674.5:c.250A>T	ENSP00000471783.1:p.Ile84Phe
ENST00000598142.5:c.1213A>T	ENSP00000470716.1:p.Ile405Phe
ENST00000598334.5:c.1204A>T	ENSP00000470152.1:p.Ile402Phe
ENST00000598774.5:c.1213A>T	ENSP00000472031.1:p.Ile405Phe
ENST00000599844.5:c.250A>T	ENSP00000470934.1:p.Ile84Phe
ENST00000601125.5:c.250A>T	ENSP00000470247.1:p.Ile84Phe
ENST00000601632.5:n.658A>T
ENST00000601895.1:n.487A>T
NM_001198938.1:c.1204A>T	NP_001185867.1:p.Ile402Phe
NM_001198939.1:c.1204A>T	NP_001185868.1:p.Ile402Phe
NM_001198940.1:c.1204A>T	NP_001185869.1:p.Ile402Phe
NM_001198941.1:c.1204A>T	NP_001185870.1:p.Ile402Phe
NM_001198942.1:c.511A>T	NP_001185871.1:p.Ile171Phe
NM_001198943.1:c.454A>T	NP_001185872.1:p.Ile152Phe
NM_001198944.1:c.340A>T	NP_001185873.1:p.Ile114Phe
NM_001198945.1:c.634A>T	NP_001185874.1:p.Ile212Phe
NM_001390.4:c.1384A>T	NP_001381.2:p.Ile462Phe
NM_001391.5:c.1384A>T	NP_001382.2:p.Ile462Phe
NM_032975.3:c.1213A>T	NP_116757.2:p.Ile405Phe
NM_032978.6:c.1375A>T	NP_116760.2:p.Ile459Phe
NM_032979.4:c.1213A>T	NP_116761.2:p.Ile405Phe
NM_032980.3:c.328A>T	NP_116762.2:p.Ile110Phe
NM_032981.4:c.250A>T	NP_116763.1:p.Ile84Phe
XM_005258207.2:c.1465A>T	XP_005258264.1:p.Ile489Phe
XM_005258212.2:c.1375A>T	XP_005258269.1:p.Ile459Phe
XM_005258216.3:c.1465A>T	XP_005258273.1:p.Ile489Phe
XM_005258217.2:c.1294A>T	XP_005258274.1:p.Ile432Phe
XM_005258218.2:c.1291A>T	XP_005258275.1:p.Ile431Phe
XM_005258219.3:c.1375A>T	XP_005258276.1:p.Ile459Phe
XM_005258220.2:c.1204A>T	XP_005258277.1:p.Ile402Phe
XM_005258221.3:c.1294A>T	XP_005258278.1:p.Ile432Phe
XM_005258222.3:c.1282A>T	XP_005258279.1:p.Ile428Phe
XM_005258223.2:c.1375A>T	XP_005258280.1:p.Ile459Phe
XM_005258224.2:c.511A>T	XP_005258281.1:p.Ile171Phe
XM_006722395.2:c.1474A>T	XP_006722458.1:p.Ile492Phe
XM_006722396.2:c.1474A>T	XP_006722459.1:p.Ile492Phe
XM_006722397.2:c.1474A>T	XP_006722460.1:p.Ile492Phe
XM_006722398.2:c.1474A>T	XP_006722461.1:p.Ile492Phe
XM_006722399.2:c.1474A>T	XP_006722462.1:p.Ile492Phe
XM_006722400.2:c.1384A>T	XP_006722463.1:p.Ile462Phe
XM_006722401.2:c.1381A>T	XP_006722464.1:p.Ile461Phe
XM_006722402.2:c.1474A>T	XP_006722465.1:p.Ile492Phe
XM_006722403.2:c.1474A>T	XP_006722466.1:p.Ile492Phe
XM_006722404.2:c.1474A>T	XP_006722467.1:p.Ile492Phe
XM_006722405.2:c.1303A>T	XP_006722468.1:p.Ile435Phe
XM_006722406.1:c.1384A>T	XP_006722469.1:p.Ile462Phe
XM_006722407.2:c.1213A>T	XP_006722470.1:p.Ile405Phe
XM_006722408.2:c.1213A>T	XP_006722471.1:p.Ile405Phe
XM_006722409.1:c.1384A>T	XP_006722472.1:p.Ile462Phe
XM_006722410.2:c.1213A>T	XP_006722473.1:p.Ile405Phe
XM_006722411.2:c.520A>T	XP_006722474.1:p.Ile174Phe
XM_006722412.2:c.340A>T	XP_006722475.1:p.Ile114Phe
XM_006722413.2:c.250A>T	XP_006722476.1:p.Ile84Phe
XM_006722414.2:c.247A>T	XP_006722477.1:p.Ile83Phe
XM_011525851.1:c.1474A>T	XP_011524153.1:p.Ile492Phe
XM_011525852.1:c.1471A>T	XP_011524154.1:p.Ile491Phe
XM_011525853.1:c.1204A>T	XP_011524155.1:p.Ile402Phe
XM_005258221.5:c.1294A>T	XP_005258278.1:p.Ile432Phe
XM_011525853.3:c.1204A>T	XP_011524155.1:p.Ile402Phe
XM_017025575.2:c.1294A>T	XP_016881064.1:p.Ile432Phe
XM_017025576.2:c.1213A>T	XP_016881065.1:p.Ile405Phe
XM_017025577.2:c.1204A>T	XP_016881066.1:p.Ile402Phe
XM_017025578.2:c.1294A>T	XP_016881067.1:p.Ile432Phe
XM_017025579.2:c.1294A>T	XP_016881068.1:p.Ile432Phe
XM_017025580.1:c.1294A>T	XP_016881069.1:p.Ile432Phe
XM_017025581.2:c.1294A>T	XP_016881070.1:p.Ile432Phe
XM_017025582.2:c.1294A>T	XP_016881071.1:p.Ile432Phe
XM_017025584.2:c.1213A>T	XP_016881073.1:p.Ile405Phe
XM_017025585.2:c.1210A>T	XP_016881074.1:p.Ile404Phe
XM_017025586.2:c.1210A>T	XP_016881075.1:p.Ile404Phe
XM_017025587.2:c.1204A>T	XP_016881076.1:p.Ile402Phe
XM_017025588.2:c.1204A>T	XP_016881077.1:p.Ile402Phe
XM_017025589.2:c.1204A>T	XP_016881078.1:p.Ile402Phe
XM_017025590.2:c.1204A>T	XP_016881079.1:p.Ile402Phe
XM_017025591.2:c.1204A>T	XP_016881080.1:p.Ile402Phe
XM_017025593.2:c.1201A>T	XP_016881082.1:p.Ile401Phe
XM_017025594.2:c.1201A>T	XP_016881083.1:p.Ile401Phe
XM_017025595.1:c.1294A>T	XP_016881084.1:p.Ile432Phe
XM_017025597.2:c.1201A>T	XP_016881086.1:p.Ile401Phe
XM_017025598.2:c.1201A>T	XP_016881087.1:p.Ile401Phe
XM_017025599.2:c.250A>T	XP_016881088.1:p.Ile84Phe
XM_024451096.1:c.1201A>T	XP_024306864.1:p.Ile401Phe
XM_024451097.1:c.1291A>T	XP_024306865.1:p.Ile431Phe
XM_024451098.1:c.1204A>T	XP_024306866.1:p.Ile402Phe
XR_001753152.1:n.1867A>T
XR_001753153.1:n.1867A>T
XR_001753154.1:n.1957A>T
XR_001753155.1:n.1867A>T
XR_001753156.1:n.1957A>T
XR_001753157.1:n.1864A>T
XR_001753158.1:n.1867A>T
XR_001753159.1:n.1954A>T
XR_001753160.1:n.1864A>T
XR_001753161.1:n.1954A>T
XR_001753162.1:n.1957A>T
XR_001753163.1:n.1864A>T
XR_002958166.1:n.1474A>T
NM_001198938.2:c.1204A>T	NP_001185867.1:p.Ile402Phe
NM_001198939.2:c.1204A>T	NP_001185868.1:p.Ile402Phe
NM_001198940.2:c.1204A>T	NP_001185869.1:p.Ile402Phe
NM_001198941.2:c.1204A>T	NP_001185870.1:p.Ile402Phe
NM_001198945.2:c.634A>T	NP_001185874.1:p.Ile212Phe
NM_032978.7:c.1375A>T	NP_116760.2:p.Ile459Phe
NM_032979.5:c.1213A>T	NP_116761.2:p.Ile405Phe
NM_032980.4:c.328A>T	NP_116762.2:p.Ile110Phe
NM_032981.5:c.250A>T	NP_116763.1:p.Ile84Phe
NM_001386753.1:c.1204A>T	NP_001373682.1:p.Ile402Phe
NM_001386754.1:c.1294A>T	NP_001373683.1:p.Ile432Phe
NM_001386755.1:c.1294A>T	NP_001373684.1:p.Ile432Phe
NM_001386756.1:c.1294A>T	NP_001373685.1:p.Ile432Phe
NM_001386757.1:c.1294A>T	NP_001373686.1:p.Ile432Phe
NM_001386758.1:c.1294A>T	NP_001373687.1:p.Ile432Phe
NM_001386759.1:c.1294A>T	NP_001373688.1:p.Ile432Phe
NM_001386760.1:c.1291A>T	NP_001373689.1:p.Ile431Phe
NM_001386761.1:c.1213A>T	NP_001373690.1:p.Ile405Phe
NM_001386762.1:c.1210A>T	NP_001373691.1:p.Ile404Phe
NM_001386763.1:c.1204A>T	NP_001373692.1:p.Ile402Phe
NM_001386764.1:c.1204A>T	NP_001373693.1:p.Ile402Phe
NM_001386765.1:c.1204A>T	NP_001373694.1:p.Ile402Phe
NM_001386766.1:c.1204A>T	NP_001373695.1:p.Ile402Phe
NM_001386767.1:c.1204A>T	NP_001373696.1:p.Ile402Phe
NM_001386768.1:c.1201A>T	NP_001373697.1:p.Ile401Phe
NM_001386769.1:c.1201A>T	NP_001373698.1:p.Ile401Phe
NM_001386770.1:c.1294A>T	NP_001373699.1:p.Ile432Phe
NM_001386771.1:c.1204A>T	NP_001373700.1:p.Ile402Phe
NM_001386772.1:c.1204A>T	NP_001373701.1:p.Ile402Phe
NM_001386773.1:c.1201A>T	NP_001373702.1:p.Ile401Phe
NM_001386774.1:c.1201A>T	NP_001373703.1:p.Ile401Phe
NM_001386788.1:c.1465A>T	NP_001373717.1:p.Ile489Phe
NM_001386795.1:c.1465A>T MANE Select	NP_001373724.1:p.Ile489Phe
NM_001390.5:c.1384A>T	NP_001381.2:p.Ile462Phe
NM_032975.4:c.1213A>T	NP_116757.2:p.Ile405Phe