Canonical Allele Identifier: CA467853068
Gene: ABO HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.136131524C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256137C>G , CM000671.2:g.133256137C>G GRCh38
NC_000009.11:g.136131524C>G , CM000671.1:g.136131524C>G GRCh37
NC_000009.10:g.135121345C>G NCBI36
NG_006669.1:g.21531G>C
NG_006669.2:g.24079G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.623G>C
ENST00000647353.1:n.54-4985G>C
ENST00000651471.1:n.549G>C
ENST00000679909.1:c.28+19025G>C ENSP00000506089.1:n.28+19025G>C
ENST00000453660.3:n.605G>C
ENST00000538324.2:c.591G>C ENSP00000483018.1:p.Arg197=
ENST00000611156.4:c.591G>C ENSP00000483265.1:p.Arg197=
NM_020469.2:c.594G>C NP_065202.2:p.Arg198=
NM_020469.3:c.594G>C NP_065202.2:p.Arg198=