Canonical Allele Identifier: CA375683174

Gene: ABO

Linked Data

• dbSNP Id: rs1352996683
• gnomAD v2: 9-136131067-C-G
• gnomAD v3: 9-133255680-C-G
• gnomAD v4: 9-133255680-C-G
• MyVariant Identifiers: chr9:g.136131067C>G (hg19) ; chr9:g.133255680C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255680C>G , CM000671.2:g.133255680C>G	GRCh38
NC_000009.11:g.136131067C>G , CM000671.1:g.136131067C>G	GRCh37
NC_000009.10:g.135120888C>G	NCBI36
NG_006669.1:g.21988G>C
NG_006669.2:g.24536G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1080G>C
ENST00000647353.1:n.54-4528G>C
ENST00000679909.1:c.28+19482G>C	ENSP00000506089.1:n.28+19482G>C
ENST00000453660.3:n.1062G>C
ENST00000538324.2:c.1048G>C	ENSP00000483018.1:p.Val350Leu
ENST00000611156.4:c.1048G>C	ENSP00000483265.1:p.Val350Leu
NM_020469.2:c.1051G>C	NP_065202.2:p.Val351Leu
NM_020469.3:c.1051G>C	NP_065202.2:p.Val351Leu