Canonical Allele Identifier: CA2000543936

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112061041G= , CM000673.2:g.112061041G= GRCh38
NC_000011.9:g.111931765G= , CM000673.1:g.111931765G= GRCh37
NC_000011.8:g.111436975G= NCBI36
NG_013342.1:g.41228G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000713569.1:c.1681G= (DLAT) ENSP00000518862.1:p.Gly561=
ENST00000280346.11:c.1681G= (DLAT) MANE Select ENSP00000280346.7:p.Gly561=
ENST00000527231.2:n.1728G= (DLAT)
ENST00000531306.2:c.1300G= (DLAT) ENSP00000433432.2:p.Gly434=
ENST00000679368.1:c.*608G= (DLAT) ENSP00000505314.1:n.*608G=
ENST00000679614.1:c.1078G= (DLAT) ENSP00000506007.1:p.Gly360=
ENST00000679815.1:c.*1114G= (DLAT) ENSP00000504880.1:n.*1114G=
ENST00000679878.1:c.1648G= (DLAT) ENSP00000505567.1:p.Gly550=
ENST00000680010.1:c.*822G= (DLAT) ENSP00000505768.1:n.*822G=
ENST00000680154.1:n.1012G= (DLAT)
ENST00000680331.1:c.1402G= (DLAT) ENSP00000506707.1:p.Gly468=
ENST00000680411.1:c.1426G= (DLAT) ENSP00000505915.1:p.Gly476=
ENST00000681316.1:c.1675G= (DLAT) ENSP00000506560.1:p.Gly559=
ENST00000681328.1:c.1660G= (DLAT) ENSP00000506355.1:p.Gly554=
ENST00000681339.1:c.1573G= (DLAT) ENSP00000506167.1:p.Gly525=
ENST00000681638.1:c.*1034G= (DLAT) ENSP00000506090.1:n.*1034G=
ENST00000280346.10:c.1681G= (DLAT) ENSP00000280346.6:p.Gly561=
ENST00000393051.5:c.1366G= (DLAT) ENSP00000376771.1:p.Gly456=
ENST00000527231.1:n.75G= (DLAT)
ENST00000531306.1:c.1177G= (DLAT) ENSP00000433432.1:p.Gly393=
ENST00000533297.1:c.*1356G= (DLAT) ENSP00000435374.1:n.*1356G=
NM_001931.4:c.1681G= (DLAT) NP_001922.2:p.Gly561=
XM_011542590.1:c.814-247C= (PIH1D2) XP_011540892.1:n.814-247C=
XM_011542592.1:c.814-8354C= (PIH1D2) XP_011540894.1:n.814-8354C=
XM_011542647.1:c.1573G= (DLAT) XP_011540949.1:p.Gly525=
XM_011542647.3:c.1573G= (DLAT) XP_011540949.1:p.Gly525=
XM_017017202.2:c.814-5261C= (PIH1D2) XP_016872691.1:n.814-5261C=
XM_017017203.2:c.814-247C= (PIH1D2) XP_016872692.1:n.814-247C=
XM_017017204.2:c.814-5290C= (PIH1D2) XP_016872693.1:n.814-5290C=
XM_017017205.2:c.814-8354C= (PIH1D2) XP_016872694.1:n.814-8354C=
NM_001372031.1:c.1699G= (DLAT) NP_001358960.1:p.Gly567=
NM_001372032.1:c.1675G= (DLAT) NP_001358961.1:p.Gly559=
NM_001372033.1:c.1660G= (DLAT) NP_001358962.1:p.Gly554=
NM_001372034.1:c.1648G= (DLAT) NP_001358963.1:p.Gly550=
NM_001372035.1:c.1573G= (DLAT) NP_001358964.1:p.Gly525=
NM_001372036.1:c.1555G= (DLAT) NP_001358965.1:p.Gly519=
NM_001372037.1:c.1513G= (DLAT) NP_001358966.1:p.Gly505=
NM_001372038.1:c.1402G= (DLAT) NP_001358967.1:p.Gly468=
NM_001372039.1:c.1366G= (DLAT) NP_001358968.1:p.Gly456=
NM_001372040.1:c.1300G= (DLAT) NP_001358969.1:p.Gly434=
NM_001372041.1:c.1258G= (DLAT) NP_001358970.1:p.Gly420=
NM_001372042.1:c.1219G= (DLAT) NP_001358971.1:p.Gly407=
NM_001931.5:c.1681G= (DLAT) MANE Select NP_001922.2:p.Gly561=
NR_164072.1:n.1558G= (DLAT)