ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA375686149
Gene: ABO
HGNC
NCBI
Linked Data
gnomAD v4:
9-133256184-C-T
MyVariant Identifiers:
chr9:g.136131571C>T (hg19)
chr9:g.133256184C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256184C>T , CM000671.2:g.133256184C>T
GRCh38
NC_000009.11:g.136131571C>T , CM000671.1:g.136131571C>T
GRCh37
NC_000009.10:g.135121392C>T
NCBI36
NG_006669.1:g.21484G>A
NG_006669.2:g.24032G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000453660.4:n.576G>A
ENST00000647353.1:n.54-5032G>A
ENST00000651471.1:n.502G>A
ENST00000679909.1:c.28+18978G>A
ENSP00000506089.1:n.28+18978G>A
ENST00000453660.3:n.558G>A
ENST00000538324.2:c.544G>A
ENSP00000483018.1:p.Asp182Asn
ENST00000611156.4:c.544G>A
ENSP00000483265.1:p.Asp182Asn
NM_020469.2:c.547G>A
NP_065202.2:p.Asp183Asn
NM_020469.3:c.547G>A
NP_065202.2:p.Asp183Asn
Search 100 bp 5'
Search 100 bp 3'