ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA375686673
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136132865A>T (hg19)
chr9:g.133257478A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133257478A>T , CM000671.2:g.133257478A>T
GRCh38
NC_000009.11:g.136132865A>T , CM000671.1:g.136132865A>T
GRCh37
NC_000009.10:g.135122686A>T
NCBI36
NG_006669.1:g.20190T>A
NG_006669.2:g.22738T>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.334T>A
ENST00000647353.1:n.54-6326T>A
ENST00000651471.1:n.329+564T>A
ENST00000679909.1:c.28+17684T>A
ENSP00000506089.1:n.28+17684T>A
ENST00000453660.3:n.316T>A
ENST00000538324.2:c.302T>A
ENSP00000483018.1:p.Ile101Asn
ENST00000611156.4:c.302T>A
ENSP00000483265.1:p.Ile101Asn
NM_020469.2:c.305T>A
NP_065202.2:p.Ile102Asn
NM_020469.3:c.305T>A
NP_065202.2:p.Ile102Asn
Search 100 bp 5'
Search 100 bp 3'