Canonical Allele Identifier: CA200765859

Gene: ABO

Linked Data

• dbSNP Id: rs575122667
• gnomAD v3: 9-133256980-C-G
• gnomAD v4: 9-133256980-C-G
• MyVariant Identifiers: chr9:g.136132367C>G (hg19) ; chr9:g.133256980C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256980C>G , CM000671.2:g.133256980C>G	GRCh38
NC_000009.11:g.136132367C>G , CM000671.1:g.136132367C>G	GRCh37
NC_000009.10:g.135122188C>G	NCBI36
NG_006669.1:g.20688G>C
NG_006669.2:g.23236G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.403+429G>C
ENST00000647353.1:n.54-5828G>C
ENST00000651471.1:n.330-624G>C
ENST00000679909.1:c.28+18182G>C	ENSP00000506089.1:n.28+18182G>C
ENST00000453660.3:n.385+429G>C
ENST00000538324.2:c.371+429G>C	ENSP00000483018.1:n.371+429G>C
ENST00000611156.4:c.371+429G>C	ENSP00000483265.1:n.371+429G>C
NM_020469.2:c.374+429G>C	NP_065202.2:n.374+429G>C
NM_020469.3:c.374+429G>C	NP_065202.2:n.374+429G>C