Canonical Allele Identifier: CA1129717531

Gene: ABO

Linked Data

• dbSNP Id: rs1213902511
• gnomAD v3: 9-133261646-C-G
• gnomAD v4: 9-133261646-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133261646C>G , CM000671.2:g.133261646C>G	GRCh38
NC_000009.11:g.136137049C>G , CM000671.1:g.136137049C>G	GRCh37
NC_000009.10:g.135126870C>G	NCBI36
NG_006669.1:g.16004G>C
NG_006669.2:g.18569G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.129-272G>C
ENST00000647353.1:n.54-10494G>C
ENST00000651471.1:n.134-272G>C
ENST00000679909.1:c.28+13516G>C	ENSP00000506089.1:n.28+13516G>C
ENST00000453660.3:n.111-272G>C
ENST00000538324.2:c.99-272G>C	ENSP00000483018.1:n.99-272G>C
ENST00000611156.4:c.99-272G>C	ENSP00000483265.1:n.99-272G>C
NM_020469.2:c.99-272G>C	NP_065202.2:n.99-272G>C
NM_020469.3:c.99-272G>C	NP_065202.2:n.99-272G>C