Canonical Allele Identifier: CA591308931

Gene: ABO

Linked Data

• dbSNP Id: rs1424278611
• gnomAD v2: 9-136132446-T-G
• gnomAD v3: 9-133257059-T-G
• gnomAD v4: 9-133257059-T-G
• MyVariant Identifiers: chr9:g.136132446T>G (hg19) ; chr9:g.133257059T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257059T>G , CM000671.2:g.133257059T>G	GRCh38
NC_000009.11:g.136132446T>G , CM000671.1:g.136132446T>G	GRCh37
NC_000009.10:g.135122267T>G	NCBI36
NG_006669.1:g.20609A>C
NG_006669.2:g.23157A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.403+350A>C
ENST00000647353.1:n.54-5907A>C
ENST00000651471.1:n.330-703A>C
ENST00000679909.1:c.28+18103A>C	ENSP00000506089.1:n.28+18103A>C
ENST00000453660.3:n.385+350A>C
ENST00000538324.2:c.371+350A>C	ENSP00000483018.1:n.371+350A>C
ENST00000611156.4:c.371+350A>C	ENSP00000483265.1:n.371+350A>C
NM_020469.2:c.374+350A>C	NP_065202.2:n.374+350A>C
NM_020469.3:c.374+350A>C	NP_065202.2:n.374+350A>C