Canonical Allele Identifier: CA375684383
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255835A>G , CM000671.2:g.133255835A>G GRCh38
NC_000009.11:g.136131222A>G , CM000671.1:g.136131222A>G GRCh37
NC_000009.10:g.135121043A>G NCBI36
NG_006669.1:g.21833T>C
NG_006669.2:g.24381T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.925T>C
ENST00000647353.1:n.54-4683T>C
ENST00000679909.1:c.28+19327T>C ENSP00000506089.1:n.28+19327T>C
ENST00000453660.3:n.907T>C
ENST00000538324.2:c.893T>C ENSP00000483018.1:p.Val298Ala
ENST00000611156.4:c.893T>C ENSP00000483265.1:p.Val298Ala
NM_020469.2:c.896T>C NP_065202.2:p.Val299Ala
NM_020469.3:c.896T>C NP_065202.2:p.Val299Ala