Canonical Allele Identifier: CA467852804
Gene: ABO HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.136131131C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255744C>T , CM000671.2:g.133255744C>T GRCh38
NC_000009.11:g.136131131C>T , CM000671.1:g.136131131C>T GRCh37
NC_000009.10:g.135120952C>T NCBI36
NG_006669.1:g.21924G>A
NG_006669.2:g.24472G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.1016G>A
ENST00000647353.1:n.54-4592G>A
ENST00000679909.1:c.28+19418G>A ENSP00000506089.1:n.28+19418G>A
ENST00000453660.3:n.998G>A
ENST00000538324.2:c.984G>A ENSP00000483018.1:p.Leu328=
ENST00000611156.4:c.984G>A ENSP00000483265.1:p.Leu328=
NM_020469.2:c.987G>A NP_065202.2:p.Leu329=
NM_020469.3:c.987G>A NP_065202.2:p.Leu329=