Canonical Allele Identifier: CA375682190
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255609C>G , CM000671.2:g.133255609C>G GRCh38
NC_000009.11:g.136130996C>G , CM000671.1:g.136130996C>G GRCh37
NC_000009.10:g.135120817C>G NCBI36
NG_006669.1:g.22059G>C
NG_006669.2:g.24607G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.1151G>C
ENST00000647353.1:n.54-4457G>C
ENST00000679909.1:c.28+19553G>C ENSP00000506089.1:n.28+19553G>C
ENST00000453660.3:n.1133G>C
ENST00000538324.2:c.1115G>C ENSP00000483018.1:p.Trp372Ser
ENST00000611156.4:c.*57G>C ENSP00000483265.1:n.*57G>C
NM_020469.2:c.*57G>C NP_065202.2:n.*57G>C
NM_020469.3:c.*57G>C NP_065202.2:n.*57G>C