Canonical Allele Identifier: CA467783003
Gene: ABO HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.136131722C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256335C>G , CM000671.2:g.133256335C>G GRCh38
NC_000009.11:g.136131722C>G , CM000671.1:g.136131722C>G GRCh37
NC_000009.10:g.135121543C>G NCBI36
NG_006669.1:g.21333G>C
NG_006669.2:g.23881G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.425G>C
ENST00000647353.1:n.54-5183G>C
ENST00000651471.1:n.351G>C
ENST00000679909.1:c.28+18827G>C ENSP00000506089.1:n.28+18827G>C
ENST00000453660.3:n.407G>C
ENST00000538324.2:c.393G>C ENSP00000483018.1:p.Leu131=
ENST00000611156.4:c.393G>C ENSP00000483265.1:p.Leu131=
NM_020469.2:c.396G>C NP_065202.2:p.Leu132=
NM_020469.3:c.396G>C NP_065202.2:p.Leu132=