ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA375683052
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136131053T>C (hg19)
chr9:g.133255666T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255666T>C , CM000671.2:g.133255666T>C
GRCh38
NC_000009.11:g.136131053T>C , CM000671.1:g.136131053T>C
GRCh37
NC_000009.10:g.135120874T>C
NCBI36
NG_006669.1:g.22002A>G
NG_006669.2:g.24550A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.1094A>G
ENST00000647353.1:n.54-4514A>G
ENST00000679909.1:c.28+19496A>G
ENSP00000506089.1:n.28+19496A>G
ENST00000453660.3:n.1076A>G
ENST00000538324.2:c.1058A>G
ENSP00000483018.1:p.Glu353Gly
ENST00000611156.4:c.1062A>G
ENSP00000483265.1:p.Ter354Trp
NM_020469.2:c.1065A>G
NP_065202.2:p.Ter355Trp
NM_020469.3:c.1065A>G
NP_065202.2:p.Ter355Trp
Search 100 bp 5'
Search 100 bp 3'