ClinGen Allele Registry
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Canonical Allele Identifier:
CA375686316
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136131660G>A (hg19)
chr9:g.133256273G>A (hg38)
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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256273G>A , CM000671.2:g.133256273G>A
GRCh38
NC_000009.11:g.136131660G>A , CM000671.1:g.136131660G>A
GRCh37
NC_000009.10:g.135121481G>A
NCBI36
NG_006669.1:g.21395C>T
NG_006669.2:g.23943C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000453660.4:n.487C>T
ENST00000647353.1:n.54-5121C>T
ENST00000651471.1:n.413C>T
ENST00000679909.1:c.28+18889C>T
ENSP00000506089.1:n.28+18889C>T
ENST00000453660.3:n.469C>T
ENST00000538324.2:c.455C>T
ENSP00000483018.1:p.Thr152Ile
ENST00000611156.4:c.455C>T
ENSP00000483265.1:p.Thr152Ile
NM_020469.2:c.458C>T
NP_065202.2:p.Thr153Ile
NM_020469.3:c.458C>T
NP_065202.2:p.Thr153Ile
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