Canonical Allele Identifier: CA119464
Gene: DTNA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8306
ClinVar RCV Id: RCV000008804
dbSNP Id: rs104894654

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.34794250C>T , CM000680.2:g.34794250C>T GRCh38
NC_000018.9:g.32374214C>T , CM000680.1:g.32374214C>T GRCh37
NC_000018.8:g.30628212C>T NCBI36
NG_009201.1:g.305961C>T

Transcript Alleles

HGVS Amino-acid change
NM_001128175.1:c.362C>T VV NP_001121647.1:p.Pro121Leu
NM_001198938.1:c.362C>T VV NP_001185867.1:p.Pro121Leu
NM_001198939.1:c.362C>T VV NP_001185868.1:p.Pro121Leu
NM_001198940.1:c.362C>T VV NP_001185869.1:p.Pro121Leu
NM_001198941.1:c.362C>T VV NP_001185870.1:p.Pro121Leu
NM_001198945.1:c.362C>T VV NP_001185874.1:p.Pro121Leu
NM_001390.4:c.362C>T VV NP_001381.2:p.Pro121Leu
NM_001391.5:c.362C>T VV NP_001382.2:p.Pro121Leu
NM_001392.4:c.362C>T VV NP_001383.2:p.Pro121Leu
NM_032975.3:c.362C>T VV NP_116757.2:p.Pro121Leu
NM_032978.6:c.362C>T VV NP_116760.2:p.Pro121Leu
NM_032979.4:c.362C>T VV NP_116761.2:p.Pro121Leu
XM_005258207.2:c.362C>T XP_005258264.1:p.Pro121Leu
XM_005258212.2:c.362C>T XP_005258269.1:p.Pro121Leu
XM_005258216.3:c.362C>T XP_005258273.1:p.Pro121Leu
XM_005258217.2:c.362C>T XP_005258274.1:p.Pro121Leu
XM_005258218.2:c.362C>T XP_005258275.1:p.Pro121Leu
XM_005258219.3:c.362C>T XP_005258276.1:p.Pro121Leu
XM_005258220.2:c.362C>T XP_005258277.1:p.Pro121Leu
XM_005258221.3:c.362C>T XP_005258278.1:p.Pro121Leu
XM_005258222.3:c.362C>T XP_005258279.1:p.Pro121Leu
XM_005258223.2:c.362C>T XP_005258280.1:p.Pro121Leu
XM_006722395.2:c.362C>T XP_006722458.1:p.Pro121Leu
XM_006722396.2:c.362C>T XP_006722459.1:p.Pro121Leu
XM_006722397.2:c.362C>T XP_006722460.1:p.Pro121Leu
XM_006722398.2:c.362C>T XP_006722461.1:p.Pro121Leu
XM_006722399.2:c.362C>T XP_006722462.1:p.Pro121Leu
XM_006722400.2:c.362C>T XP_006722463.1:p.Pro121Leu
XM_006722401.2:c.362C>T XP_006722464.1:p.Pro121Leu
XM_006722402.2:c.362C>T XP_006722465.1:p.Pro121Leu
XM_006722403.2:c.362C>T XP_006722466.1:p.Pro121Leu
XM_006722404.2:c.362C>T XP_006722467.1:p.Pro121Leu
XM_006722405.2:c.362C>T XP_006722468.1:p.Pro121Leu
XM_006722406.1:c.362C>T XP_006722469.1:p.Pro121Leu
XM_006722407.2:c.362C>T XP_006722470.1:p.Pro121Leu
XM_006722408.2:c.362C>T XP_006722471.1:p.Pro121Leu
XM_006722409.1:c.362C>T XP_006722472.1:p.Pro121Leu
XM_006722410.2:c.362C>T XP_006722473.1:p.Pro121Leu
XM_006722415.1:c.362C>T XP_006722478.1:p.Pro121Leu
XM_011525851.1:c.362C>T XP_011524153.1:p.Pro121Leu
XM_011525852.1:c.362C>T XP_011524154.1:p.Pro121Leu
XM_011525853.1:c.362C>T XP_011524155.1:p.Pro121Leu
XM_005258221.5:c.362C>T
XM_011525853.3:c.362C>T
XM_017025575.2:c.362C>T XP_016881064.1:p.Pro121Leu
XM_017025576.2:c.362C>T XP_016881065.1:p.Pro121Leu
XM_017025577.2:c.362C>T XP_016881066.1:p.Pro121Leu
XM_017025578.2:c.362C>T XP_016881067.1:p.Pro121Leu
XM_017025579.2:c.362C>T XP_016881068.1:p.Pro121Leu
XM_017025580.1:c.362C>T XP_016881069.1:p.Pro121Leu
XM_017025581.2:c.362C>T XP_016881070.1:p.Pro121Leu
XM_017025582.2:c.362C>T XP_016881071.1:p.Pro121Leu
XM_017025584.2:c.362C>T XP_016881073.1:p.Pro121Leu
XM_017025585.2:c.362C>T XP_016881074.1:p.Pro121Leu
XM_017025586.2:c.362C>T XP_016881075.1:p.Pro121Leu
XM_017025587.2:c.362C>T XP_016881076.1:p.Pro121Leu
XM_017025588.2:c.362C>T XP_016881077.1:p.Pro121Leu
XM_017025589.2:c.362C>T XP_016881078.1:p.Pro121Leu
XM_017025590.2:c.362C>T XP_016881079.1:p.Pro121Leu
XM_017025591.2:c.362C>T XP_016881080.1:p.Pro121Leu
XM_017025593.2:c.362C>T XP_016881082.1:p.Pro121Leu
XM_017025594.2:c.362C>T XP_016881083.1:p.Pro121Leu
XM_017025595.1:c.362C>T XP_016881084.1:p.Pro121Leu
XM_017025597.2:c.362C>T XP_016881086.1:p.Pro121Leu
XM_017025598.2:c.362C>T XP_016881087.1:p.Pro121Leu
XM_017025600.2:c.362C>T XP_016881089.1:p.Pro121Leu
XM_017025601.2:c.362C>T XP_016881090.1:p.Pro121Leu
XM_017025602.2:c.362C>T XP_016881091.1:p.Pro121Leu
XM_024451096.1:c.362C>T XP_024306864.1:p.Pro121Leu
XM_024451097.1:c.362C>T XP_024306865.1:p.Pro121Leu
XM_024451098.1:c.362C>T XP_024306866.1:p.Pro121Leu
XR_001753152.1:n.708C>T
XR_001753153.1:n.708C>T
XR_001753154.1:n.708C>T
XR_001753155.1:n.708C>T
XR_001753156.1:n.708C>T
XR_001753157.1:n.708C>T
XR_001753158.1:n.708C>T
XR_001753159.1:n.708C>T
XR_001753160.1:n.708C>T
XR_001753161.1:n.708C>T
XR_001753162.1:n.708C>T
XR_001753163.1:n.708C>T
XR_002958166.1:n.542C>T
ENST00000283365.13:c.362C>T ENSP00000283365.9:p.Pro121Leu
ENST00000315456.10:c.362C>T ENSP00000322519.5:p.Pro121Leu
ENST00000348997.9:c.362C>T ENSP00000336682.4:p.Pro121Leu
ENST00000399113.7:n.362C>T ENSP00000382064.3:p.Pro121Leu
ENST00000399121.9:c.362C>T ENSP00000382072.5:p.Pro121Leu
ENST00000444659.5:c.362C>T ENSP00000405819.1:p.Pro121Leu
ENST00000554864.7:c.362C>T ENSP00000451516.2:p.Pro121Leu
ENST00000585446.1:n.376C>T
ENST00000590598.5:c.362C>T ENSP00000468473.1:p.Pro121Leu
ENST00000595022.5:c.362C>T ENSP00000473078.1:p.Pro121Leu
ENST00000596745.5:c.362C>T ENSP00000469121.1:p.Pro121Leu
ENST00000597599.5:c.362C>T ENSP00000473119.1:p.Pro121Leu
ENST00000598142.5:c.362C>T ENSP00000470716.1:p.Pro121Leu
ENST00000598334.5:c.362C>T ENSP00000470152.1:p.Pro121Leu
ENST00000598774.5:c.362C>T ENSP00000472031.1:p.Pro121Leu