ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA375685781
Gene: ABO
HGNC
NCBI
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr9:g.133256085A>C
GRCh37
chr9:g.136131472A>C
Linked Data - NCBI & NCI
dbSNP:
8176740
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256085A>C , CM000671.2:g.133256085A>C
GRCh38
NC_000009.11:g.136131472A>C , CM000671.1:g.136131472A>C
GRCh37
NC_000009.10:g.135121293A>C
NCBI36
NG_006669.1:g.21583T>G
NG_006669.2:g.24131T>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.675T>G
ENST00000647353.1:n.54-4933T>G
ENST00000679909.1:c.28+19077T>G
ENSP00000506089.1:n.28+19077T>G
ENST00000453660.3:n.657T>G
ENST00000538324.2:c.643T>G
ENSP00000483018.1:p.Phe215Val
ENST00000611156.4:c.643T>G
ENSP00000483265.1:p.Phe215Val
NM_020469.2:c.646T>G
NP_065202.2:p.Phe216Val
NM_020469.3:c.646T>G
NP_065202.2:p.Phe216Val
Search 100 bp 5'
Search 100 bp 3'