ClinGen Allele Registry
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Canonical Allele Identifier:
CA375686144
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136131570T>A (hg19)
chr9:g.133256183T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256183T>A , CM000671.2:g.133256183T>A
GRCh38
NC_000009.11:g.136131570T>A , CM000671.1:g.136131570T>A
GRCh37
NC_000009.10:g.135121391T>A
NCBI36
NG_006669.1:g.21485A>T
NG_006669.2:g.24033A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000453660.4:n.577A>T
ENST00000647353.1:n.54-5031A>T
ENST00000651471.1:n.503A>T
ENST00000679909.1:c.28+18979A>T
ENSP00000506089.1:n.28+18979A>T
ENST00000453660.3:n.559A>T
ENST00000538324.2:c.545A>T
ENSP00000483018.1:p.Asp182Val
ENST00000611156.4:c.545A>T
ENSP00000483265.1:p.Asp182Val
NM_020469.2:c.548A>T
NP_065202.2:p.Asp183Val
NM_020469.3:c.548A>T
NP_065202.2:p.Asp183Val
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