Canonical Allele Identifier: CA204916

Gene: DLAT

Linked Data

• ClinVar Variation Id: 208790
• ClinVar RCV Id: RCV000190817 ; RCV000767878 ; RCV003317143
• dbSNP Id: rs797044957
• MyVariant Identifiers: chr11:g.111899327T>G (hg19) ; chr11:g.112028603T>G (hg38)
• PubMed: PMID:1293379 ; PMID:16049940 ; PMID:20022530 ; PMID:22079328

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112028603T>G , CM000673.2:g.112028603T>G	GRCh38
NC_000011.9:g.111899327T>G , CM000673.1:g.111899327T>G	GRCh37
NC_000011.8:g.111404537T>G	NCBI36
NG_013342.1:g.8790T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713569.1:c.470T>G	ENSP00000518862.1:p.Val157Gly
ENST00000280346.11:c.470T>G MANE Select	ENSP00000280346.7:p.Val157Gly
ENST00000527231.2:n.517T>G
ENST00000531306.2:c.364+2321T>G	ENSP00000433432.2:n.364+2321T>G
ENST00000679368.1:c.470T>G	ENSP00000505314.1:p.Val157Gly
ENST00000679466.1:n.517T>G
ENST00000679614.1:c.25-310T>G	ENSP00000506007.1:n.25-310T>G
ENST00000679815.1:c.470T>G	ENSP00000504880.1:p.Val157Gly
ENST00000679829.1:n.517T>G
ENST00000679878.1:c.437T>G	ENSP00000505567.1:p.Val146Gly
ENST00000680010.1:c.470T>G	ENSP00000505768.1:p.Val157Gly
ENST00000680331.1:c.381+2304T>G	ENSP00000506707.1:n.381+2304T>G
ENST00000680411.1:c.215T>G	ENSP00000505915.1:p.Val72Gly
ENST00000681316.1:c.470T>G	ENSP00000506560.1:p.Val157Gly
ENST00000681328.1:c.470T>G	ENSP00000506355.1:p.Val157Gly
ENST00000681339.1:c.470T>G	ENSP00000506167.1:p.Val157Gly
ENST00000681638.1:c.470T>G	ENSP00000506090.1:p.Val157Gly
ENST00000280346.10:c.470T>G	ENSP00000280346.6:p.Val157Gly
ENST00000393051.5:c.470T>G	ENSP00000376771.1:p.Val157Gly
ENST00000531306.1:c.241+2321T>G	ENSP00000433432.1:n.241+2321T>G
ENST00000533297.1:c.*145T>G	ENSP00000435374.1:n.*145T>G
NM_001931.4:c.470T>G	NP_001922.2:p.Val157Gly
XM_011542647.1:c.470T>G	XP_011540949.1:p.Val157Gly
XM_011542647.3:c.470T>G	XP_011540949.1:p.Val157Gly
NM_001372031.1:c.470T>G	NP_001358960.1:p.Val157Gly
NM_001372032.1:c.470T>G	NP_001358961.1:p.Val157Gly
NM_001372033.1:c.470T>G	NP_001358962.1:p.Val157Gly
NM_001372034.1:c.437T>G	NP_001358963.1:p.Val146Gly
NM_001372035.1:c.470T>G	NP_001358964.1:p.Val157Gly
NM_001372036.1:c.344T>G	NP_001358965.1:p.Val115Gly
NM_001372037.1:c.302T>G	NP_001358966.1:p.Val101Gly
NM_001372038.1:c.381+2304T>G	NP_001358967.1:n.381+2304T>G
NM_001372039.1:c.470T>G	NP_001358968.1:p.Val157Gly
NM_001372040.1:c.364+2321T>G	NP_001358969.1:n.364+2321T>G
NM_001372041.1:c.470T>G	NP_001358970.1:p.Val157Gly
NM_001372042.1:c.4T>G	NP_001358971.1:p.Phe2Val
NM_001931.5:c.470T>G MANE Select	NP_001922.2:p.Val157Gly
NR_164072.1:n.535T>G