ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA375685509
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136131418G>T (hg19)
chr9:g.133256031G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256031G>T , CM000671.2:g.133256031G>T
GRCh38
NC_000009.11:g.136131418G>T , CM000671.1:g.136131418G>T
GRCh37
NC_000009.10:g.135121239G>T
NCBI36
NG_006669.1:g.21637C>A
NG_006669.2:g.24185C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.729C>A
ENST00000647353.1:n.54-4879C>A
ENST00000679909.1:c.28+19131C>A
ENSP00000506089.1:n.28+19131C>A
ENST00000453660.3:n.711C>A
ENST00000538324.2:c.697C>A
ENSP00000483018.1:p.Pro233Thr
ENST00000611156.4:c.697C>A
ENSP00000483265.1:p.Pro233Thr
NM_020469.2:c.700C>A
NP_065202.2:p.Pro234Thr
NM_020469.3:c.700C>A
NP_065202.2:p.Pro234Thr
Search 100 bp 5'
Search 100 bp 3'