ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA375684531
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136131240G>T (hg19)
chr9:g.133255853G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255853G>T , CM000671.2:g.133255853G>T
GRCh38
NC_000009.11:g.136131240G>T , CM000671.1:g.136131240G>T
GRCh37
NC_000009.10:g.135121061G>T
NCBI36
NG_006669.1:g.21815C>A
NG_006669.2:g.24363C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.907C>A
ENST00000647353.1:n.54-4701C>A
ENST00000679909.1:c.28+19309C>A
ENSP00000506089.1:n.28+19309C>A
ENST00000453660.3:n.889C>A
ENST00000538324.2:c.875C>A
ENSP00000483018.1:p.Ala292Asp
ENST00000611156.4:c.875C>A
ENSP00000483265.1:p.Ala292Asp
NM_020469.2:c.878C>A
NP_065202.2:p.Ala293Asp
NM_020469.3:c.878C>A
NP_065202.2:p.Ala293Asp
Search 100 bp 5'
Search 100 bp 3'