Canonical Allele Identifier: CA467782318
Gene: ABO HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.136131049C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255662C>G , CM000671.2:g.133255662C>G GRCh38
NC_000009.11:g.136131049C>G , CM000671.1:g.136131049C>G GRCh37
NC_000009.10:g.135120870C>G NCBI36
NG_006669.1:g.22006G>C
NG_006669.2:g.24554G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.1098G>C
ENST00000647353.1:n.54-4510G>C
ENST00000679909.1:c.28+19500G>C ENSP00000506089.1:n.28+19500G>C
ENST00000453660.3:n.1080G>C
ENST00000538324.2:c.1062G>C ENSP00000483018.1:p.Arg354=
ENST00000611156.4:c.*4G>C ENSP00000483265.1:n.*4G>C
NM_020469.2:c.*4G>C NP_065202.2:n.*4G>C
NM_020469.3:c.*4G>C NP_065202.2:n.*4G>C