Canonical Allele Identifier: CA375685041
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255924G>C , CM000671.2:g.133255924G>C GRCh38
NC_000009.11:g.136131311G>C , CM000671.1:g.136131311G>C GRCh37
NC_000009.10:g.135121132G>C NCBI36
NG_006669.1:g.21744C>G
NG_006669.2:g.24292C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.836C>G
ENST00000647353.1:n.54-4772C>G
ENST00000679909.1:c.28+19238C>G ENSP00000506089.1:n.28+19238C>G
ENST00000453660.3:n.818C>G
ENST00000538324.2:c.804C>G ENSP00000483018.1:p.Phe268Leu
ENST00000611156.4:c.804C>G ENSP00000483265.1:p.Phe268Leu
NM_020469.2:c.807C>G NP_065202.2:p.Phe269Leu
NM_020469.3:c.807C>G NP_065202.2:p.Phe269Leu