Canonical Allele Identifier: CA375686570
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133257430A>C , CM000671.2:g.133257430A>C GRCh38
NC_000009.11:g.136132817A>C , CM000671.1:g.136132817A>C GRCh37
NC_000009.10:g.135122638A>C NCBI36
NG_006669.1:g.20238T>G
NG_006669.2:g.22786T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.382T>G
ENST00000647353.1:n.54-6278T>G
ENST00000651471.1:n.329+612T>G
ENST00000679909.1:c.28+17732T>G ENSP00000506089.1:n.28+17732T>G
ENST00000453660.3:n.364T>G
ENST00000538324.2:c.350T>G ENSP00000483018.1:p.Leu117Ter
ENST00000611156.4:c.350T>G ENSP00000483265.1:p.Leu117Ter
NM_020469.2:c.353T>G NP_065202.2:p.Leu118Ter
NM_020469.3:c.353T>G NP_065202.2:p.Leu118Ter