ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA375684769
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs1293483850
MyVariant Identifiers:
chr9:g.136131267C>T (hg19)
chr9:g.133255880C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255880C>T , CM000671.2:g.133255880C>T
GRCh38
NC_000009.11:g.136131267C>T , CM000671.1:g.136131267C>T
GRCh37
NC_000009.10:g.135121088C>T
NCBI36
NG_006669.1:g.21788G>A
NG_006669.2:g.24336G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.880G>A
ENST00000647353.1:n.54-4728G>A
ENST00000679909.1:c.28+19282G>A
ENSP00000506089.1:n.28+19282G>A
ENST00000453660.3:n.862G>A
ENST00000538324.2:c.848G>A
ENSP00000483018.1:p.Cys283Tyr
ENST00000611156.4:c.848G>A
ENSP00000483265.1:p.Cys283Tyr
NM_020469.2:c.851G>A
NP_065202.2:p.Cys284Tyr
NM_020469.3:c.851G>A
NP_065202.2:p.Cys284Tyr
Search 100 bp 5'
Search 100 bp 3'