ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA375683288
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136131081T>A (hg19)
chr9:g.133255694T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255694T>A , CM000671.2:g.133255694T>A
GRCh38
NC_000009.11:g.136131081T>A , CM000671.1:g.136131081T>A
GRCh37
NC_000009.10:g.135120902T>A
NCBI36
NG_006669.1:g.21974A>T
NG_006669.2:g.24522A>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.1066A>T
ENST00000647353.1:n.54-4542A>T
ENST00000679909.1:c.28+19468A>T
ENSP00000506089.1:n.28+19468A>T
ENST00000453660.3:n.1048A>T
ENST00000538324.2:c.1034A>T
ENSP00000483018.1:p.Lys345Met
ENST00000611156.4:c.1034A>T
ENSP00000483265.1:p.Lys345Met
NM_020469.2:c.1037A>T
NP_065202.2:p.Lys346Met
NM_020469.3:c.1037A>T
NP_065202.2:p.Lys346Met
Search 100 bp 5'
Search 100 bp 3'