Canonical Allele Identifier: CA375686379
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256300C>G , CM000671.2:g.133256300C>G GRCh38
NC_000009.11:g.136131687C>G , CM000671.1:g.136131687C>G GRCh37
NC_000009.10:g.135121508C>G NCBI36
NG_006669.1:g.21368G>C
NG_006669.2:g.23916G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.460G>C
ENST00000647353.1:n.54-5148G>C
ENST00000651471.1:n.386G>C
ENST00000679909.1:c.28+18862G>C ENSP00000506089.1:n.28+18862G>C
ENST00000453660.3:n.442G>C
ENST00000538324.2:c.428G>C ENSP00000483018.1:p.Gly143Ala
ENST00000611156.4:c.428G>C ENSP00000483265.1:p.Gly143Ala
NM_020469.2:c.431G>C NP_065202.2:p.Gly144Ala
NM_020469.3:c.431G>C NP_065202.2:p.Gly144Ala