Canonical Allele Identifier: CA591308930

Gene: ABO

Linked Data

• dbSNP Id: rs1383566870
• gnomAD v2: 9-136132440-C-G
• gnomAD v3: 9-133257053-C-G
• gnomAD v4: 9-133257053-C-G
• MyVariant Identifiers: chr9:g.136132440C>G (hg19) ; chr9:g.133257053C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257053C>G , CM000671.2:g.133257053C>G	GRCh38
NC_000009.11:g.136132440C>G , CM000671.1:g.136132440C>G	GRCh37
NC_000009.10:g.135122261C>G	NCBI36
NG_006669.1:g.20615G>C
NG_006669.2:g.23163G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.403+356G>C
ENST00000647353.1:n.54-5901G>C
ENST00000651471.1:n.330-697G>C
ENST00000679909.1:c.28+18109G>C	ENSP00000506089.1:n.28+18109G>C
ENST00000453660.3:n.385+356G>C
ENST00000538324.2:c.371+356G>C	ENSP00000483018.1:n.371+356G>C
ENST00000611156.4:c.371+356G>C	ENSP00000483265.1:n.371+356G>C
NM_020469.2:c.374+356G>C	NP_065202.2:n.374+356G>C
NM_020469.3:c.374+356G>C	NP_065202.2:n.374+356G>C