Canonical Allele Identifier: CA375682202
Gene: ABO HGNC NCBI

Linked Data

dbSNP Id: rs7466519

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255615C>G , CM000671.2:g.133255615C>G GRCh38
NC_000009.11:g.136131002C>G , CM000671.1:g.136131002C>G GRCh37
NC_000009.10:g.135120823C>G NCBI36
NG_006669.1:g.22053G>C
NG_006669.2:g.24601G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.1145G>C
ENST00000647353.1:n.54-4463G>C
ENST00000679909.1:c.28+19547G>C ENSP00000506089.1:n.28+19547G>C
ENST00000453660.3:n.1127G>C
ENST00000538324.2:c.1109G>C ENSP00000483018.1:p.Arg370Pro
ENST00000611156.4:c.*51G>C ENSP00000483265.1:n.*51G>C
NM_020469.2:c.*51G>C NP_065202.2:n.*51G>C
NM_020469.3:c.*51G>C NP_065202.2:n.*51G>C