Canonical Allele Identifier: CA382598087

Gene: DLAT

Linked Data

• ClinVar Variation Id: 452714
• ClinVar RCV Id: RCV000518970 ; RCV003333076
• dbSNP Id: rs1555179247
• gnomAD v4: 11-112026285-G-T
• MyVariant Identifiers: chr11:g.111897009G>T (hg19) ; chr11:g.112026285G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112026285G>T , CM000673.2:g.112026285G>T	GRCh38
NC_000011.9:g.111897009G>T , CM000673.1:g.111897009G>T	GRCh37
NC_000011.8:g.111402219G>T	NCBI36
NG_013342.1:g.6472G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713569.1:c.367G>T	ENSP00000518862.1:p.Asp123Tyr
ENST00000280346.11:c.367G>T MANE Select	ENSP00000280346.7:p.Asp123Tyr
ENST00000527231.2:n.414G>T
ENST00000531306.2:c.364+3G>T	ENSP00000433432.2:n.364+3G>T
ENST00000679368.1:c.367G>T	ENSP00000505314.1:p.Asp123Tyr
ENST00000679466.1:n.414G>T
ENST00000679614.1:c.24+789G>T	ENSP00000506007.1:n.24+789G>T
ENST00000679815.1:c.367G>T	ENSP00000504880.1:p.Asp123Tyr
ENST00000679829.1:n.414G>T
ENST00000679878.1:c.334G>T	ENSP00000505567.1:p.Asp112Tyr
ENST00000680010.1:c.367G>T	ENSP00000505768.1:p.Asp123Tyr
ENST00000680331.1:c.367G>T	ENSP00000506707.1:p.Asp123Tyr
ENST00000680411.1:c.112G>T	ENSP00000505915.1:p.Asp38Tyr
ENST00000681316.1:c.367G>T	ENSP00000506560.1:p.Asp123Tyr
ENST00000681328.1:c.367G>T	ENSP00000506355.1:p.Asp123Tyr
ENST00000681339.1:c.367G>T	ENSP00000506167.1:p.Asp123Tyr
ENST00000681638.1:c.367G>T	ENSP00000506090.1:p.Asp123Tyr
ENST00000280346.10:c.367G>T	ENSP00000280346.6:p.Asp123Tyr
ENST00000393051.5:c.367G>T	ENSP00000376771.1:p.Asp123Tyr
ENST00000531306.1:c.241+3G>T	ENSP00000433432.1:n.241+3G>T
ENST00000533297.1:c.*42G>T	ENSP00000435374.1:n.*42G>T
NM_001931.4:c.367G>T	NP_001922.2:p.Asp123Tyr
XM_011542647.1:c.367G>T	XP_011540949.1:p.Asp123Tyr
XM_011542647.3:c.367G>T	XP_011540949.1:p.Asp123Tyr
NM_001372031.1:c.367G>T	NP_001358960.1:p.Asp123Tyr
NM_001372032.1:c.367G>T	NP_001358961.1:p.Asp123Tyr
NM_001372033.1:c.367G>T	NP_001358962.1:p.Asp123Tyr
NM_001372034.1:c.334G>T	NP_001358963.1:p.Asp112Tyr
NM_001372035.1:c.367G>T	NP_001358964.1:p.Asp123Tyr
NM_001372036.1:c.241G>T	NP_001358965.1:p.Asp81Tyr
NM_001372037.1:c.199G>T	NP_001358966.1:p.Asp67Tyr
NM_001372038.1:c.367G>T	NP_001358967.1:p.Asp123Tyr
NM_001372039.1:c.367G>T	NP_001358968.1:p.Asp123Tyr
NM_001372040.1:c.364+3G>T	NP_001358969.1:n.364+3G>T
NM_001372041.1:c.367G>T	NP_001358970.1:p.Asp123Tyr
NM_001372042.1:c.-100G>T	NP_001358971.1:n.-100G>T
NM_001931.5:c.367G>T MANE Select	NP_001922.2:p.Asp123Tyr
NR_164072.1:n.432G>T