Canonical Allele Identifier: CA382617680

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112060009G>A , CM000673.2:g.112060009G>A GRCh38
NC_000011.9:g.111930733G>A , CM000673.1:g.111930733G>A GRCh37
NC_000011.8:g.111435943G>A NCBI36
NG_013342.1:g.40196G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000713569.1:c.1621G>A (DLAT) ENSP00000518862.1:p.Val541Ile
ENST00000280346.11:c.1621G>A (DLAT) MANE Select ENSP00000280346.7:p.Val541Ile
ENST00000527231.2:n.1668G>A (DLAT)
ENST00000531306.2:c.1240G>A (DLAT) ENSP00000433432.2:p.Val414Ile
ENST00000679368.1:c.*548G>A (DLAT) ENSP00000505314.1:n.*548G>A
ENST00000679614.1:c.1018G>A (DLAT) ENSP00000506007.1:p.Val340Ile
ENST00000679815.1:c.*1054G>A (DLAT) ENSP00000504880.1:n.*1054G>A
ENST00000679878.1:c.1588G>A (DLAT) ENSP00000505567.1:p.Val530Ile
ENST00000680010.1:c.*762G>A (DLAT) ENSP00000505768.1:n.*762G>A
ENST00000680154.1:n.952G>A (DLAT)
ENST00000680331.1:c.1342G>A (DLAT) ENSP00000506707.1:p.Val448Ile
ENST00000680411.1:c.1366G>A (DLAT) ENSP00000505915.1:p.Val456Ile
ENST00000681316.1:c.1615G>A (DLAT) ENSP00000506560.1:p.Val539Ile
ENST00000681328.1:c.1600G>A (DLAT) ENSP00000506355.1:p.Val534Ile
ENST00000681339.1:c.1513G>A (DLAT) ENSP00000506167.1:p.Val505Ile
ENST00000681638.1:c.*974G>A (DLAT) ENSP00000506090.1:n.*974G>A
ENST00000280346.10:c.1621G>A (DLAT) ENSP00000280346.6:p.Val541Ile
ENST00000393051.5:c.1306G>A (DLAT) ENSP00000376771.1:p.Val436Ile
ENST00000527231.1:n.15G>A (DLAT)
ENST00000531306.1:c.1117G>A (DLAT) ENSP00000433432.1:p.Val373Ile
ENST00000533297.1:c.*1296G>A (DLAT) ENSP00000435374.1:n.*1296G>A
NM_001931.4:c.1621G>A (DLAT) NP_001922.2:p.Val541Ile
XM_011542592.1:c.814-7322C>T (PIH1D2) XP_011540894.1:n.814-7322C>T
XM_011542647.1:c.1513G>A (DLAT) XP_011540949.1:p.Val505Ile
XM_011542647.3:c.1513G>A (DLAT) XP_011540949.1:p.Val505Ile
XM_017017202.2:c.814-4229C>T (PIH1D2) XP_016872691.1:n.814-4229C>T
XM_017017204.2:c.814-4258C>T (PIH1D2) XP_016872693.1:n.814-4258C>T
XM_017017205.2:c.814-7322C>T (PIH1D2) XP_016872694.1:n.814-7322C>T
NM_001372031.1:c.1639G>A (DLAT) NP_001358960.1:p.Val547Ile
NM_001372032.1:c.1615G>A (DLAT) NP_001358961.1:p.Val539Ile
NM_001372033.1:c.1600G>A (DLAT) NP_001358962.1:p.Val534Ile
NM_001372034.1:c.1588G>A (DLAT) NP_001358963.1:p.Val530Ile
NM_001372035.1:c.1513G>A (DLAT) NP_001358964.1:p.Val505Ile
NM_001372036.1:c.1495G>A (DLAT) NP_001358965.1:p.Val499Ile
NM_001372037.1:c.1453G>A (DLAT) NP_001358966.1:p.Val485Ile
NM_001372038.1:c.1342G>A (DLAT) NP_001358967.1:p.Val448Ile
NM_001372039.1:c.1306G>A (DLAT) NP_001358968.1:p.Val436Ile
NM_001372040.1:c.1240G>A (DLAT) NP_001358969.1:p.Val414Ile
NM_001372041.1:c.1198G>A (DLAT) NP_001358970.1:p.Val400Ile
NM_001372042.1:c.1159G>A (DLAT) NP_001358971.1:p.Val387Ile
NM_001931.5:c.1621G>A (DLAT) MANE Select NP_001922.2:p.Val541Ile
NR_164072.1:n.1498G>A (DLAT)