Canonical Allele Identifier: CA10629945

Gene: DPAGT1

Linked Data

• ClinVar Variation Id: 302757
• ClinVar RCV Id: RCV000350240 ; RCV001556680
• dbSNP Id: rs141116509
• gnomAD v2: 11-118972714-A-G
• gnomAD v3: 11-119102004-A-G
• gnomAD v4: 11-119102004-A-G
• MyVariant Identifiers: chr11:g.118972714A>G (hg19) ; chr11:g.119102004A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119102004A>G , CM000673.2:g.119102004A>G	GRCh38
NC_000011.9:g.118972714A>G , CM000673.1:g.118972714A>G	GRCh37
NC_000011.8:g.118477924A>G	NCBI36
NG_008918.1:g.5072T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682652.1:n.93T>C
ENST00000354202.8:c.-349T>C	ENSP00000346142.4:n.-349T>C
ENST00000409993.6:c.-123+100T>C	ENSP00000386597.2:n.-123+100T>C
ENST00000442480.1:c.132+236T>C	ENSP00000406591.1:n.132+236T>C
ENST00000481084.5:n.139T>C
NM_001382.3:c.-349T>C	NP_001373.2:n.-349T>C
XM_005271422.2:c.-349T>C	XP_005271479.1:n.-349T>C
XM_011542648.1:c.-549T>C	XP_011540950.1:n.-549T>C
XR_947801.1:n.88T>C