ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA375685741
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs1163644644
gnomAD v2:
9-136131462-T-C
gnomAD v4:
9-133256075-T-C
MyVariant Identifiers:
chr9:g.136131462T>C (hg19)
chr9:g.133256075T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256075T>C , CM000671.2:g.133256075T>C
GRCh38
NC_000009.11:g.136131462T>C , CM000671.1:g.136131462T>C
GRCh37
NC_000009.10:g.135121283T>C
NCBI36
NG_006669.1:g.21593A>G
NG_006669.2:g.24141A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.685A>G
ENST00000647353.1:n.54-4923A>G
ENST00000679909.1:c.28+19087A>G
ENSP00000506089.1:n.28+19087A>G
ENST00000453660.3:n.667A>G
ENST00000538324.2:c.653A>G
ENSP00000483018.1:p.His218Arg
ENST00000611156.4:c.653A>G
ENSP00000483265.1:p.His218Arg
NM_020469.2:c.656A>G
NP_065202.2:p.His219Arg
NM_020469.3:c.656A>G
NP_065202.2:p.His219Arg
Search 100 bp 5'
Search 100 bp 3'