Canonical Allele Identifier: CA467783010
Gene: ABO HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.136131730G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256343G>A , CM000671.2:g.133256343G>A GRCh38
NC_000009.11:g.136131730G>A , CM000671.1:g.136131730G>A GRCh37
NC_000009.10:g.135121551G>A NCBI36
NG_006669.1:g.21325C>T
NG_006669.2:g.23873C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.417C>T
ENST00000647353.1:n.54-5191C>T
ENST00000651471.1:n.343C>T
ENST00000679909.1:c.28+18819C>T ENSP00000506089.1:n.28+18819C>T
ENST00000453660.3:n.399C>T
ENST00000538324.2:c.385C>T ENSP00000483018.1:p.Leu129=
ENST00000611156.4:c.385C>T ENSP00000483265.1:p.Leu129=
NM_020469.2:c.388C>T NP_065202.2:p.Leu130=
NM_020469.3:c.388C>T NP_065202.2:p.Leu130=