Canonical Allele Identifier: CA375686156
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256187G>C , CM000671.2:g.133256187G>C GRCh38
NC_000009.11:g.136131574G>C , CM000671.1:g.136131574G>C GRCh37
NC_000009.10:g.135121395G>C NCBI36
NG_006669.1:g.21481C>G
NG_006669.2:g.24029C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.573C>G
ENST00000647353.1:n.54-5035C>G
ENST00000651471.1:n.499C>G
ENST00000679909.1:c.28+18975C>G ENSP00000506089.1:n.28+18975C>G
ENST00000453660.3:n.555C>G
ENST00000538324.2:c.541C>G ENSP00000483018.1:p.Gln181Glu
ENST00000611156.4:c.541C>G ENSP00000483265.1:p.Gln181Glu
NM_020469.2:c.544C>G NP_065202.2:p.Gln182Glu
NM_020469.3:c.544C>G NP_065202.2:p.Gln182Glu