Canonical Allele Identifier: CA375684409
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255839C>G , CM000671.2:g.133255839C>G GRCh38
NC_000009.11:g.136131226C>G , CM000671.1:g.136131226C>G GRCh37
NC_000009.10:g.135121047C>G NCBI36
NG_006669.1:g.21829G>C
NG_006669.2:g.24377G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.921G>C
ENST00000647353.1:n.54-4687G>C
ENST00000679909.1:c.28+19323G>C ENSP00000506089.1:n.28+19323G>C
ENST00000453660.3:n.903G>C
ENST00000538324.2:c.889G>C ENSP00000483018.1:p.Ala297Pro
ENST00000611156.4:c.889G>C ENSP00000483265.1:p.Ala297Pro
NM_020469.2:c.892G>C NP_065202.2:p.Ala298Pro
NM_020469.3:c.892G>C NP_065202.2:p.Ala298Pro