ClinGen Allele Registry
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Canonical Allele Identifier:
CA375682256
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136131033C>A (hg19)
chr9:g.133255646C>A (hg38)
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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255646C>A , CM000671.2:g.133255646C>A
GRCh38
NC_000009.11:g.136131033C>A , CM000671.1:g.136131033C>A
GRCh37
NC_000009.10:g.135120854C>A
NCBI36
NG_006669.1:g.22022G>T
NG_006669.2:g.24570G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.1114G>T
ENST00000647353.1:n.54-4494G>T
ENST00000679909.1:c.28+19516G>T
ENSP00000506089.1:n.28+19516G>T
ENST00000453660.3:n.1096G>T
ENST00000538324.2:c.1078G>T
ENSP00000483018.1:p.Gly360Ter
ENST00000611156.4:c.*20G>T
ENSP00000483265.1:n.*20G>T
NM_020469.2:c.*20G>T
NP_065202.2:n.*20G>T
NM_020469.3:c.*20G>T
NP_065202.2:n.*20G>T
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