Canonical Allele Identifier: CA375684483
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255847C>G , CM000671.2:g.133255847C>G GRCh38
NC_000009.11:g.136131234C>G , CM000671.1:g.136131234C>G GRCh37
NC_000009.10:g.135121055C>G NCBI36
NG_006669.1:g.21821G>C
NG_006669.2:g.24369G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.913G>C
ENST00000647353.1:n.54-4695G>C
ENST00000679909.1:c.28+19315G>C ENSP00000506089.1:n.28+19315G>C
ENST00000453660.3:n.895G>C
ENST00000538324.2:c.881G>C ENSP00000483018.1:p.Gly294Ala
ENST00000611156.4:c.881G>C ENSP00000483265.1:p.Gly294Ala
NM_020469.2:c.884G>C NP_065202.2:p.Gly295Ala
NM_020469.3:c.884G>C NP_065202.2:p.Gly295Ala