Canonical Allele Identifier: CA382617970

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112061038G>A , CM000673.2:g.112061038G>A GRCh38
NC_000011.9:g.111931762G>A , CM000673.1:g.111931762G>A GRCh37
NC_000011.8:g.111436972G>A NCBI36
NG_013342.1:g.41225G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000713569.1:c.1678G>A (DLAT) ENSP00000518862.1:p.Gly560Ser
ENST00000280346.11:c.1678G>A (DLAT) MANE Select ENSP00000280346.7:p.Gly560Ser
ENST00000527231.2:n.1725G>A (DLAT)
ENST00000531306.2:c.1297G>A (DLAT) ENSP00000433432.2:p.Gly433Ser
ENST00000679368.1:c.*605G>A (DLAT) ENSP00000505314.1:n.*605G>A
ENST00000679614.1:c.1075G>A (DLAT) ENSP00000506007.1:p.Gly359Ser
ENST00000679815.1:c.*1111G>A (DLAT) ENSP00000504880.1:n.*1111G>A
ENST00000679878.1:c.1645G>A (DLAT) ENSP00000505567.1:p.Gly549Ser
ENST00000680010.1:c.*819G>A (DLAT) ENSP00000505768.1:n.*819G>A
ENST00000680154.1:n.1009G>A (DLAT)
ENST00000680331.1:c.1399G>A (DLAT) ENSP00000506707.1:p.Gly467Ser
ENST00000680411.1:c.1423G>A (DLAT) ENSP00000505915.1:p.Gly475Ser
ENST00000681316.1:c.1672G>A (DLAT) ENSP00000506560.1:p.Gly558Ser
ENST00000681328.1:c.1657G>A (DLAT) ENSP00000506355.1:p.Gly553Ser
ENST00000681339.1:c.1570G>A (DLAT) ENSP00000506167.1:p.Gly524Ser
ENST00000681638.1:c.*1031G>A (DLAT) ENSP00000506090.1:n.*1031G>A
ENST00000280346.10:c.1678G>A (DLAT) ENSP00000280346.6:p.Gly560Ser
ENST00000393051.5:c.1363G>A (DLAT) ENSP00000376771.1:p.Gly455Ser
ENST00000527231.1:n.72G>A (DLAT)
ENST00000531306.1:c.1174G>A (DLAT) ENSP00000433432.1:p.Gly392Ser
ENST00000533297.1:c.*1353G>A (DLAT) ENSP00000435374.1:n.*1353G>A
NM_001931.4:c.1678G>A (DLAT) NP_001922.2:p.Gly560Ser
XM_011542590.1:c.814-244C>T (PIH1D2) XP_011540892.1:n.814-244C>T
XM_011542592.1:c.814-8351C>T (PIH1D2) XP_011540894.1:n.814-8351C>T
XM_011542647.1:c.1570G>A (DLAT) XP_011540949.1:p.Gly524Ser
XM_011542647.3:c.1570G>A (DLAT) XP_011540949.1:p.Gly524Ser
XM_017017202.2:c.814-5258C>T (PIH1D2) XP_016872691.1:n.814-5258C>T
XM_017017203.2:c.814-244C>T (PIH1D2) XP_016872692.1:n.814-244C>T
XM_017017204.2:c.814-5287C>T (PIH1D2) XP_016872693.1:n.814-5287C>T
XM_017017205.2:c.814-8351C>T (PIH1D2) XP_016872694.1:n.814-8351C>T
NM_001372031.1:c.1696G>A (DLAT) NP_001358960.1:p.Gly566Ser
NM_001372032.1:c.1672G>A (DLAT) NP_001358961.1:p.Gly558Ser
NM_001372033.1:c.1657G>A (DLAT) NP_001358962.1:p.Gly553Ser
NM_001372034.1:c.1645G>A (DLAT) NP_001358963.1:p.Gly549Ser
NM_001372035.1:c.1570G>A (DLAT) NP_001358964.1:p.Gly524Ser
NM_001372036.1:c.1552G>A (DLAT) NP_001358965.1:p.Gly518Ser
NM_001372037.1:c.1510G>A (DLAT) NP_001358966.1:p.Gly504Ser
NM_001372038.1:c.1399G>A (DLAT) NP_001358967.1:p.Gly467Ser
NM_001372039.1:c.1363G>A (DLAT) NP_001358968.1:p.Gly455Ser
NM_001372040.1:c.1297G>A (DLAT) NP_001358969.1:p.Gly433Ser
NM_001372041.1:c.1255G>A (DLAT) NP_001358970.1:p.Gly419Ser
NM_001372042.1:c.1216G>A (DLAT) NP_001358971.1:p.Gly406Ser
NM_001931.5:c.1678G>A (DLAT) MANE Select NP_001922.2:p.Gly560Ser
NR_164072.1:n.1555G>A (DLAT)