Canonical Allele Identifier: CA6276970

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112059986G>A , CM000673.2:g.112059986G>A GRCh38
NC_000011.9:g.111930710G>A , CM000673.1:g.111930710G>A GRCh37
NC_000011.8:g.111435920G>A NCBI36
NG_013342.1:g.40173G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001931.5:c.1598G>A (DLAT) MANE Select NP_001922.2:p.Gly533Glu
ENST00000280346.11:c.1598G>A (DLAT) MANE Select ENSP00000280346.7:p.Gly533Glu
NM_001372031.1:c.1616G>A (DLAT) NP_001358960.1:p.Gly539Glu
NM_001372032.1:c.1592G>A (DLAT) NP_001358961.1:p.Gly531Glu
NM_001372033.1:c.1577G>A (DLAT) NP_001358962.1:p.Gly526Glu
NM_001372034.1:c.1565G>A (DLAT) NP_001358963.1:p.Gly522Glu
NM_001372035.1:c.1490G>A (DLAT) NP_001358964.1:p.Gly497Glu
NM_001372036.1:c.1472G>A (DLAT) NP_001358965.1:p.Gly491Glu
NM_001372037.1:c.1430G>A (DLAT) NP_001358966.1:p.Gly477Glu
NM_001372038.1:c.1319G>A (DLAT) NP_001358967.1:p.Gly440Glu
NM_001372039.1:c.1283G>A (DLAT) NP_001358968.1:p.Gly428Glu
NM_001372040.1:c.1217G>A (DLAT) NP_001358969.1:p.Gly406Glu
NM_001372041.1:c.1175G>A (DLAT) NP_001358970.1:p.Gly392Glu
NM_001372042.1:c.1136G>A (DLAT) NP_001358971.1:p.Gly379Glu
NM_001931.4:c.1598G>A (DLAT) NP_001922.2:p.Gly533Glu
NR_164072.1:n.1475G>A (DLAT)
ENST00000280346.10:c.1598G>A (DLAT) ENSP00000280346.6:p.Gly533Glu
ENST00000393051.5:c.1283G>A (DLAT) ENSP00000376771.1:p.Gly428Glu
ENST00000527231.2:n.1645G>A (DLAT)
ENST00000531306.1:c.1094G>A (DLAT) ENSP00000433432.1:p.Gly365Glu
ENST00000531306.2:c.1217G>A (DLAT) ENSP00000433432.2:p.Gly406Glu
ENST00000533297.1:c.*1273G>A (DLAT) ENSP00000435374.1:n.*1273G>A
ENST00000679368.1:c.*525G>A (DLAT) ENSP00000505314.1:n.*525G>A
ENST00000679614.1:c.995G>A (DLAT) ENSP00000506007.1:p.Gly332Glu
ENST00000679815.1:c.*1031G>A (DLAT) ENSP00000504880.1:n.*1031G>A
ENST00000679878.1:c.1565G>A (DLAT) ENSP00000505567.1:p.Gly522Glu
ENST00000680010.1:c.*739G>A (DLAT) ENSP00000505768.1:n.*739G>A
ENST00000680154.1:n.929G>A (DLAT)
ENST00000680331.1:c.1319G>A (DLAT) ENSP00000506707.1:p.Gly440Glu
ENST00000680411.1:c.1343G>A (DLAT) ENSP00000505915.1:p.Gly448Glu
ENST00000681316.1:c.1592G>A (DLAT) ENSP00000506560.1:p.Gly531Glu
ENST00000681328.1:c.1577G>A (DLAT) ENSP00000506355.1:p.Gly526Glu
ENST00000681339.1:c.1490G>A (DLAT) ENSP00000506167.1:p.Gly497Glu
ENST00000681638.1:c.*951G>A (DLAT) ENSP00000506090.1:n.*951G>A
ENST00000713569.1:c.1598G>A (DLAT) ENSP00000518862.1:p.Gly533Glu
XM_011542592.1:c.814-7299C>T (PIH1D2) XP_011540894.1:n.814-7299C>T
XM_011542647.1:c.1490G>A (DLAT) XP_011540949.1:p.Gly497Glu
XM_011542647.3:c.1490G>A (DLAT) XP_011540949.1:p.Gly497Glu
XM_017017202.2:c.814-4206C>T (PIH1D2) XP_016872691.1:n.814-4206C>T
XM_017017204.2:c.814-4235C>T (PIH1D2) XP_016872693.1:n.814-4235C>T
XM_017017205.2:c.814-7299C>T (PIH1D2) XP_016872694.1:n.814-7299C>T