Canonical Allele Identifier: CA375685182

Gene: ABO

Linked Data

• dbSNP Id: rs1403489417
• gnomAD v3: 9-133255947-C-G
• gnomAD v4: 9-133255947-C-G
• MyVariant Identifiers: chr9:g.136131334C>G (hg19) ; chr9:g.133255947C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255947C>G , CM000671.2:g.133255947C>G	GRCh38
NC_000009.11:g.136131334C>G , CM000671.1:g.136131334C>G	GRCh37
NC_000009.10:g.135121155C>G	NCBI36
NG_006669.1:g.21721G>C
NG_006669.2:g.24269G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.813G>C
ENST00000647353.1:n.54-4795G>C
ENST00000679909.1:c.28+19215G>C	ENSP00000506089.1:n.28+19215G>C
ENST00000453660.3:n.795G>C
ENST00000538324.2:c.781G>C	ENSP00000483018.1:p.Asp261His
ENST00000611156.4:c.781G>C	ENSP00000483265.1:p.Asp261His
NM_020469.2:c.784G>C	NP_065202.2:p.Asp262His
NM_020469.3:c.784G>C	NP_065202.2:p.Asp262His