ClinGen Allele Registry
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Canonical Allele Identifier:
CA375682233
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136131020G>T (hg19)
chr9:g.133255633G>T (hg38)
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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255633G>T , CM000671.2:g.133255633G>T
GRCh38
NC_000009.11:g.136131020G>T , CM000671.1:g.136131020G>T
GRCh37
NC_000009.10:g.135120841G>T
NCBI36
NG_006669.1:g.22035C>A
NG_006669.2:g.24583C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.1127C>A
ENST00000647353.1:n.54-4481C>A
ENST00000679909.1:c.28+19529C>A
ENSP00000506089.1:n.28+19529C>A
ENST00000453660.3:n.1109C>A
ENST00000538324.2:c.1091C>A
ENSP00000483018.1:p.Ala364Glu
ENST00000611156.4:c.*33C>A
ENSP00000483265.1:n.*33C>A
NM_020469.2:c.*33C>A
NP_065202.2:n.*33C>A
NM_020469.3:c.*33C>A
NP_065202.2:n.*33C>A
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