Canonical Allele Identifier: CA375683503
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255716G>T , CM000671.2:g.133255716G>T GRCh38
NC_000009.11:g.136131103G>T , CM000671.1:g.136131103G>T GRCh37
NC_000009.10:g.135120924G>T NCBI36
NG_006669.1:g.21952C>A
NG_006669.2:g.24500C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.1044C>A
ENST00000647353.1:n.54-4564C>A
ENST00000679909.1:c.28+19446C>A ENSP00000506089.1:n.28+19446C>A
ENST00000453660.3:n.1026C>A
ENST00000538324.2:c.1012C>A ENSP00000483018.1:p.Leu338Met
ENST00000611156.4:c.1012C>A ENSP00000483265.1:p.Leu338Met
NM_020469.2:c.1015C>A NP_065202.2:p.Leu339Met
NM_020469.3:c.1015C>A NP_065202.2:p.Leu339Met