×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA375686602
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136132833T>G (hg19)
chr9:g.133257446T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133257446T>G , CM000671.2:g.133257446T>G
GRCh38
NC_000009.11:g.136132833T>G , CM000671.1:g.136132833T>G
GRCh37
NC_000009.10:g.135122654T>G
NCBI36
NG_006669.1:g.20222A>C
NG_006669.2:g.22770A>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000453660.4:n.366A>C
ENST00000647353.1:n.54-6294A>C
ENST00000651471.1:n.329+596A>C
ENST00000679909.1:c.28+17716A>C
ENSP00000506089.1:n.28+17716A>C
ENST00000453660.3:n.348A>C
ENST00000538324.2:c.334A>C
ENSP00000483018.1:p.Asn112His
ENST00000611156.4:c.334A>C
ENSP00000483265.1:p.Asn112His
NM_020469.2:c.337A>C
NP_065202.2:p.Asn113His
NM_020469.3:c.337A>C
NP_065202.2:p.Asn113His
Search 100 bp 5'
Search 100 bp 3'