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Canonical Allele Identifier:
CA375686767
Gene: ABO
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr9:g.133257523C>A
GRCh37
chr9:g.136132910C>A
Linked Data - NCBI & NCI
dbSNP:
2118948204
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133257523C>A , CM000671.2:g.133257523C>A
GRCh38
NC_000009.11:g.136132910C>A , CM000671.1:g.136132910C>A
GRCh37
NC_000009.10:g.135122731C>A
NCBI36
NG_006669.1:g.20144G>T
NG_006669.2:g.22692G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.289G>T
ENST00000647353.1:n.54-6371G>T
ENST00000651471.1:n.329+519G>T
ENST00000679909.1:c.28+17639G>T
ENSP00000506089.1:n.28+17639G>T
ENST00000453660.3:n.271G>T
ENST00000538324.2:c.259-2G>T
ENSP00000483018.1:n.259-2G>T
ENST00000611156.4:c.259-2G>T
ENSP00000483265.1:n.259-2G>T
NM_020469.2:c.259G>T
NP_065202.2:p.Val87Leu
NM_020469.3:c.259G>T
NP_065202.2:p.Val87Leu
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