ClinGen Allele Registry
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Canonical Allele Identifier:
CA375685258
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136131359C>A (hg19)
chr9:g.133255972C>A (hg38)
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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255972C>A , CM000671.2:g.133255972C>A
GRCh38
NC_000009.11:g.136131359C>A , CM000671.1:g.136131359C>A
GRCh37
NC_000009.10:g.135121180C>A
NCBI36
NG_006669.1:g.21696G>T
NG_006669.2:g.24244G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.788G>T
ENST00000647353.1:n.54-4820G>T
ENST00000679909.1:c.28+19190G>T
ENSP00000506089.1:n.28+19190G>T
ENST00000453660.3:n.770G>T
ENST00000538324.2:c.756G>T
ENSP00000483018.1:p.Gln252His
ENST00000611156.4:c.756G>T
ENSP00000483265.1:p.Gln252His
NM_020469.2:c.759G>T
NP_065202.2:p.Gln253His
NM_020469.3:c.759G>T
NP_065202.2:p.Gln253His
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