Canonical Allele Identifier: CA375686150

Gene: ABO

Linked Data

• gnomAD v4: 9-133256185-C-G
• MyVariant Identifiers: chr9:g.136131572C>G (hg19) ; chr9:g.133256185C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256185C>G , CM000671.2:g.133256185C>G	GRCh38
NC_000009.11:g.136131572C>G , CM000671.1:g.136131572C>G	GRCh37
NC_000009.10:g.135121393C>G	NCBI36
NG_006669.1:g.21483G>C
NG_006669.2:g.24031G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.575G>C
ENST00000647353.1:n.54-5033G>C
ENST00000651471.1:n.501G>C
ENST00000679909.1:c.28+18977G>C	ENSP00000506089.1:n.28+18977G>C
ENST00000453660.3:n.557G>C
ENST00000538324.2:c.543G>C	ENSP00000483018.1:p.Gln181His
ENST00000611156.4:c.543G>C	ENSP00000483265.1:p.Gln181His
NM_020469.2:c.546G>C	NP_065202.2:p.Gln182His
NM_020469.3:c.546G>C	NP_065202.2:p.Gln182His