Canonical Allele Identifier: CA382617992

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112061042G>T , CM000673.2:g.112061042G>T GRCh38
NC_000011.9:g.111931766G>T , CM000673.1:g.111931766G>T GRCh37
NC_000011.8:g.111436976G>T NCBI36
NG_013342.1:g.41229G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000713569.1:c.1682G>T (DLAT) ENSP00000518862.1:p.Gly561Val
ENST00000280346.11:c.1682G>T (DLAT) MANE Select ENSP00000280346.7:p.Gly561Val
ENST00000527231.2:n.1729G>T (DLAT)
ENST00000531306.2:c.1301G>T (DLAT) ENSP00000433432.2:p.Gly434Val
ENST00000679368.1:c.*609G>T (DLAT) ENSP00000505314.1:n.*609G>T
ENST00000679614.1:c.1079G>T (DLAT) ENSP00000506007.1:p.Gly360Val
ENST00000679815.1:c.*1115G>T (DLAT) ENSP00000504880.1:n.*1115G>T
ENST00000679878.1:c.1649G>T (DLAT) ENSP00000505567.1:p.Gly550Val
ENST00000680010.1:c.*823G>T (DLAT) ENSP00000505768.1:n.*823G>T
ENST00000680154.1:n.1013G>T (DLAT)
ENST00000680331.1:c.1403G>T (DLAT) ENSP00000506707.1:p.Gly468Val
ENST00000680411.1:c.1427G>T (DLAT) ENSP00000505915.1:p.Gly476Val
ENST00000681316.1:c.1676G>T (DLAT) ENSP00000506560.1:p.Gly559Val
ENST00000681328.1:c.1661G>T (DLAT) ENSP00000506355.1:p.Gly554Val
ENST00000681339.1:c.1574G>T (DLAT) ENSP00000506167.1:p.Gly525Val
ENST00000681638.1:c.*1035G>T (DLAT) ENSP00000506090.1:n.*1035G>T
ENST00000280346.10:c.1682G>T (DLAT) ENSP00000280346.6:p.Gly561Val
ENST00000393051.5:c.1367G>T (DLAT) ENSP00000376771.1:p.Gly456Val
ENST00000527231.1:n.76G>T (DLAT)
ENST00000531306.1:c.1178G>T (DLAT) ENSP00000433432.1:p.Gly393Val
ENST00000533297.1:c.*1357G>T (DLAT) ENSP00000435374.1:n.*1357G>T
NM_001931.4:c.1682G>T (DLAT) NP_001922.2:p.Gly561Val
XM_011542590.1:c.814-248C>A (PIH1D2) XP_011540892.1:n.814-248C>A
XM_011542592.1:c.814-8355C>A (PIH1D2) XP_011540894.1:n.814-8355C>A
XM_011542647.1:c.1574G>T (DLAT) XP_011540949.1:p.Gly525Val
XM_011542647.3:c.1574G>T (DLAT) XP_011540949.1:p.Gly525Val
XM_017017202.2:c.814-5262C>A (PIH1D2) XP_016872691.1:n.814-5262C>A
XM_017017203.2:c.814-248C>A (PIH1D2) XP_016872692.1:n.814-248C>A
XM_017017204.2:c.814-5291C>A (PIH1D2) XP_016872693.1:n.814-5291C>A
XM_017017205.2:c.814-8355C>A (PIH1D2) XP_016872694.1:n.814-8355C>A
NM_001372031.1:c.1700G>T (DLAT) NP_001358960.1:p.Gly567Val
NM_001372032.1:c.1676G>T (DLAT) NP_001358961.1:p.Gly559Val
NM_001372033.1:c.1661G>T (DLAT) NP_001358962.1:p.Gly554Val
NM_001372034.1:c.1649G>T (DLAT) NP_001358963.1:p.Gly550Val
NM_001372035.1:c.1574G>T (DLAT) NP_001358964.1:p.Gly525Val
NM_001372036.1:c.1556G>T (DLAT) NP_001358965.1:p.Gly519Val
NM_001372037.1:c.1514G>T (DLAT) NP_001358966.1:p.Gly505Val
NM_001372038.1:c.1403G>T (DLAT) NP_001358967.1:p.Gly468Val
NM_001372039.1:c.1367G>T (DLAT) NP_001358968.1:p.Gly456Val
NM_001372040.1:c.1301G>T (DLAT) NP_001358969.1:p.Gly434Val
NM_001372041.1:c.1259G>T (DLAT) NP_001358970.1:p.Gly420Val
NM_001372042.1:c.1220G>T (DLAT) NP_001358971.1:p.Gly407Val
NM_001931.5:c.1682G>T (DLAT) MANE Select NP_001922.2:p.Gly561Val
NR_164072.1:n.1559G>T (DLAT)