Canonical Allele Identifier: CA382617987

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000713569.1:c.1681G>T (DLAT) ENSP00000518862.1:p.Gly561Cys
ENST00000280346.11:c.1681G>T (DLAT) MANE Select ENSP00000280346.7:p.Gly561Cys
ENST00000527231.2:n.1728G>T (DLAT)
ENST00000531306.2:c.1300G>T (DLAT) ENSP00000433432.2:p.Gly434Cys
ENST00000679368.1:c.*608G>T (DLAT) ENSP00000505314.1:n.*608G>T
ENST00000679614.1:c.1078G>T (DLAT) ENSP00000506007.1:p.Gly360Cys
ENST00000679815.1:c.*1114G>T (DLAT) ENSP00000504880.1:n.*1114G>T
ENST00000679878.1:c.1648G>T (DLAT) ENSP00000505567.1:p.Gly550Cys
ENST00000680010.1:c.*822G>T (DLAT) ENSP00000505768.1:n.*822G>T
ENST00000680154.1:n.1012G>T (DLAT)
ENST00000680331.1:c.1402G>T (DLAT) ENSP00000506707.1:p.Gly468Cys
ENST00000680411.1:c.1426G>T (DLAT) ENSP00000505915.1:p.Gly476Cys
ENST00000681316.1:c.1675G>T (DLAT) ENSP00000506560.1:p.Gly559Cys
ENST00000681328.1:c.1660G>T (DLAT) ENSP00000506355.1:p.Gly554Cys
ENST00000681339.1:c.1573G>T (DLAT) ENSP00000506167.1:p.Gly525Cys
ENST00000681638.1:c.*1034G>T (DLAT) ENSP00000506090.1:n.*1034G>T
ENST00000280346.10:c.1681G>T (DLAT) ENSP00000280346.6:p.Gly561Cys
ENST00000393051.5:c.1366G>T (DLAT) ENSP00000376771.1:p.Gly456Cys
ENST00000527231.1:n.75G>T (DLAT)
ENST00000531306.1:c.1177G>T (DLAT) ENSP00000433432.1:p.Gly393Cys
ENST00000533297.1:c.*1356G>T (DLAT) ENSP00000435374.1:n.*1356G>T
NM_001931.4:c.1681G>T (DLAT) NP_001922.2:p.Gly561Cys
XM_011542590.1:c.814-247C>A (PIH1D2) XP_011540892.1:n.814-247C>A
XM_011542592.1:c.814-8354C>A (PIH1D2) XP_011540894.1:n.814-8354C>A
XM_011542647.1:c.1573G>T (DLAT) XP_011540949.1:p.Gly525Cys
XM_011542647.3:c.1573G>T (DLAT) XP_011540949.1:p.Gly525Cys
XM_017017202.2:c.814-5261C>A (PIH1D2) XP_016872691.1:n.814-5261C>A
XM_017017203.2:c.814-247C>A (PIH1D2) XP_016872692.1:n.814-247C>A
XM_017017204.2:c.814-5290C>A (PIH1D2) XP_016872693.1:n.814-5290C>A
XM_017017205.2:c.814-8354C>A (PIH1D2) XP_016872694.1:n.814-8354C>A
NM_001372031.1:c.1699G>T (DLAT) NP_001358960.1:p.Gly567Cys
NM_001372032.1:c.1675G>T (DLAT) NP_001358961.1:p.Gly559Cys
NM_001372033.1:c.1660G>T (DLAT) NP_001358962.1:p.Gly554Cys
NM_001372034.1:c.1648G>T (DLAT) NP_001358963.1:p.Gly550Cys
NM_001372035.1:c.1573G>T (DLAT) NP_001358964.1:p.Gly525Cys
NM_001372036.1:c.1555G>T (DLAT) NP_001358965.1:p.Gly519Cys
NM_001372037.1:c.1513G>T (DLAT) NP_001358966.1:p.Gly505Cys
NM_001372038.1:c.1402G>T (DLAT) NP_001358967.1:p.Gly468Cys
NM_001372039.1:c.1366G>T (DLAT) NP_001358968.1:p.Gly456Cys
NM_001372040.1:c.1300G>T (DLAT) NP_001358969.1:p.Gly434Cys
NM_001372041.1:c.1258G>T (DLAT) NP_001358970.1:p.Gly420Cys
NM_001372042.1:c.1219G>T (DLAT) NP_001358971.1:p.Gly407Cys
NM_001931.5:c.1681G>T (DLAT) MANE Select NP_001922.2:p.Gly561Cys
NR_164072.1:n.1558G>T (DLAT)