ClinGen Allele Registry
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Canonical Allele Identifier:
CA5305815
Gene: ABO
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256205G>C , CM000671.2:g.133256205G>C
GRCh38
NC_000009.11:g.136131592G>C , CM000671.1:g.136131592G>C
GRCh37
NC_000009.10:g.135121413G>C
NCBI36
NG_006669.1:g.21463C>G
NG_006669.2:g.24011C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.555C>G
ENST00000647353.1:n.54-5053C>G
ENST00000651471.1:n.481C>G
ENST00000679909.1:c.28+18957C>G
ENSP00000506089.1:n.28+18957C>G
ENST00000453660.3:n.537C>G
ENST00000538324.2:c.523C>G
ENSP00000483018.1:p.Arg175Gly
ENST00000611156.4:c.523C>G
ENSP00000483265.1:p.Arg175Gly
NM_020469.2:c.526C>G
NP_065202.2:p.Arg176Gly
NM_020469.3:c.526C>G
NP_065202.2:p.Arg176Gly
Search 100 bp 5'
Search 100 bp 3'