ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA375685723
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136131459A>C (hg19)
chr9:g.133256072A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256072A>C , CM000671.2:g.133256072A>C
GRCh38
NC_000009.11:g.136131459A>C , CM000671.1:g.136131459A>C
GRCh37
NC_000009.10:g.135121280A>C
NCBI36
NG_006669.1:g.21596T>G
NG_006669.2:g.24144T>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.688T>G
ENST00000647353.1:n.54-4920T>G
ENST00000679909.1:c.28+19090T>G
ENSP00000506089.1:n.28+19090T>G
ENST00000453660.3:n.670T>G
ENST00000538324.2:c.656T>G
ENSP00000483018.1:p.Val219Gly
ENST00000611156.4:c.656T>G
ENSP00000483265.1:p.Val219Gly
NM_020469.2:c.659T>G
NP_065202.2:p.Val220Gly
NM_020469.3:c.659T>G
NP_065202.2:p.Val220Gly
Search 100 bp 5'
Search 100 bp 3'