Canonical Allele Identifier: CA375686333
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256280C>G , CM000671.2:g.133256280C>G GRCh38
NC_000009.11:g.136131667C>G , CM000671.1:g.136131667C>G GRCh37
NC_000009.10:g.135121488C>G NCBI36
NG_006669.1:g.21388G>C
NG_006669.2:g.23936G>C

Transcript Alleles

HGVS Amino-acid change
NM_020469.2:c.451G>C NP_065202.2:p.Val151Leu
NM_020469.3:c.451G>C NP_065202.2:p.Val151Leu
ENST00000453660.3:n.462G>C
ENST00000538324.2:c.448G>C ENSP00000483018.1:p.Val150Leu
ENST00000611156.4:c.448G>C ENSP00000483265.1:p.Val150Leu