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Canonical Allele Identifier:
CA375686669
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136132863C>G (hg19)
chr9:g.133257476C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133257476C>G , CM000671.2:g.133257476C>G
GRCh38
NC_000009.11:g.136132863C>G , CM000671.1:g.136132863C>G
GRCh37
NC_000009.10:g.135122684C>G
NCBI36
NG_006669.1:g.20192G>C
NG_006669.2:g.22740G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.336G>C
ENST00000647353.1:n.54-6324G>C
ENST00000651471.1:n.329+566G>C
ENST00000679909.1:c.28+17686G>C
ENSP00000506089.1:n.28+17686G>C
ENST00000453660.3:n.318G>C
ENST00000538324.2:c.304G>C
ENSP00000483018.1:p.Asp102His
ENST00000611156.4:c.304G>C
ENSP00000483265.1:p.Asp102His
NM_020469.2:c.307G>C
NP_065202.2:p.Asp103His
NM_020469.3:c.307G>C
NP_065202.2:p.Asp103His
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