Canonical Allele Identifier: CA6276819

Gene: DLAT

Linked Data

• ClinVar Variation Id: 432159
• ClinVar RCV Id: RCV000497872
• dbSNP Id: rs782070173
• ExAC: 11:111910123 T / C
• gnomAD v2: 11-111910123-T-C
• gnomAD v3: 11-112039399-T-C
• gnomAD v4: 11-112039399-T-C
• MyVariant Identifiers: chr11:g.111910123T>C (hg19) ; chr11:g.111910123_111910124delinsCA (hg19) ; chr11:g.112039399T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112039399T>C , CM000673.2:g.112039399T>C	GRCh38
NC_000011.9:g.111910123T>C , CM000673.1:g.111910123T>C	GRCh37
NC_000011.8:g.111415333T>C	NCBI36
NG_013342.1:g.19586T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713569.1:c.1129+2T>C	ENSP00000518862.1:n.1129+2T>C
ENST00000280346.11:c.1129+2T>C MANE Select	ENSP00000280346.7:n.1129+2T>C
ENST00000527231.2:n.1176+2T>C
ENST00000531306.2:c.748+2T>C	ENSP00000433432.2:n.748+2T>C
ENST00000679368.1:c.*56+2T>C	ENSP00000505314.1:n.*56+2T>C
ENST00000679466.1:n.1176+2T>C
ENST00000679614.1:c.526+2T>C	ENSP00000506007.1:n.526+2T>C
ENST00000679815.1:c.*562+2T>C	ENSP00000504880.1:n.*562+2T>C
ENST00000679829.1:n.1258T>C
ENST00000679878.1:c.1096+2T>C	ENSP00000505567.1:n.1096+2T>C
ENST00000680010.1:c.*270+2T>C	ENSP00000505768.1:n.*270+2T>C
ENST00000680331.1:c.850+2T>C	ENSP00000506707.1:n.850+2T>C
ENST00000680411.1:c.874+2T>C	ENSP00000505915.1:n.874+2T>C
ENST00000681316.1:c.1129+2T>C	ENSP00000506560.1:n.1129+2T>C
ENST00000681328.1:c.1129+2T>C	ENSP00000506355.1:n.1129+2T>C
ENST00000681339.1:c.1129+2T>C	ENSP00000506167.1:n.1129+2T>C
ENST00000681638.1:c.*482+2T>C	ENSP00000506090.1:n.*482+2T>C
ENST00000280346.10:c.1129+2T>C	ENSP00000280346.6:n.1129+2T>C
ENST00000393051.5:c.814+2T>C	ENSP00000376771.1:n.814+2T>C
ENST00000531306.1:c.625+2T>C	ENSP00000433432.1:n.625+2T>C
ENST00000533297.1:c.*804+2T>C	ENSP00000435374.1:n.*804+2T>C
NM_001931.4:c.1129+2T>C	NP_001922.2:n.1129+2T>C
XM_011542647.1:c.1129+2T>C	XP_011540949.1:n.1129+2T>C
XM_011542647.3:c.1129+2T>C	XP_011540949.1:n.1129+2T>C
NM_001372031.1:c.1129+2T>C	NP_001358960.1:n.1129+2T>C
NM_001372032.1:c.1129+2T>C	NP_001358961.1:n.1129+2T>C
NM_001372033.1:c.1129+2T>C	NP_001358962.1:n.1129+2T>C
NM_001372034.1:c.1096+2T>C	NP_001358963.1:n.1096+2T>C
NM_001372035.1:c.1129+2T>C	NP_001358964.1:n.1129+2T>C
NM_001372036.1:c.1003+2T>C	NP_001358965.1:n.1003+2T>C
NM_001372037.1:c.961+2T>C	NP_001358966.1:n.961+2T>C
NM_001372038.1:c.850+2T>C	NP_001358967.1:n.850+2T>C
NM_001372039.1:c.814+2T>C	NP_001358968.1:n.814+2T>C
NM_001372040.1:c.748+2T>C	NP_001358969.1:n.748+2T>C
NM_001372041.1:c.814+2T>C	NP_001358970.1:n.814+2T>C
NM_001372042.1:c.667+2T>C	NP_001358971.1:n.667+2T>C
NM_001931.5:c.1129+2T>C MANE Select	NP_001922.2:n.1129+2T>C
NR_164072.1:n.1006+2T>C