ClinGen Allele Registry
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Canonical Allele Identifier:
CA375684130
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs1834564099
MyVariant Identifiers:
chr9:g.136131193A>G (hg19)
chr9:g.133255806A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255806A>G , CM000671.2:g.133255806A>G
GRCh38
NC_000009.11:g.136131193A>G , CM000671.1:g.136131193A>G
GRCh37
NC_000009.10:g.135121014A>G
NCBI36
NG_006669.1:g.21862T>C
NG_006669.2:g.24410T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000453660.4:n.954T>C
ENST00000647353.1:n.54-4654T>C
ENST00000679909.1:c.28+19356T>C
ENSP00000506089.1:n.28+19356T>C
ENST00000453660.3:n.936T>C
ENST00000538324.2:c.922T>C
ENSP00000483018.1:p.Tyr308His
ENST00000611156.4:c.922T>C
ENSP00000483265.1:p.Tyr308His
NM_020469.2:c.925T>C
NP_065202.2:p.Tyr309His
NM_020469.3:c.925T>C
NP_065202.2:p.Tyr309His
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