ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA375686116
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs782738668
gnomAD v2:
9-136131555-C-T
gnomAD v3:
9-133256168-C-T
gnomAD v4:
9-133256168-C-T
MyVariant Identifiers:
chr9:g.136131555C>T (hg19)
chr9:g.133256168C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256168C>T , CM000671.2:g.133256168C>T
GRCh38
NC_000009.11:g.136131555C>T , CM000671.1:g.136131555C>T
GRCh37
NC_000009.10:g.135121376C>T
NCBI36
NG_006669.1:g.21500G>A
NG_006669.2:g.24048G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000453660.4:n.592G>A
ENST00000647353.1:n.54-5016G>A
ENST00000651471.1:n.518G>A
ENST00000679909.1:c.28+18994G>A
ENSP00000506089.1:n.28+18994G>A
ENST00000453660.3:n.574G>A
ENST00000538324.2:c.560G>A
ENSP00000483018.1:p.Arg187His
ENST00000611156.4:c.560G>A
ENSP00000483265.1:p.Arg187His
NM_020469.2:c.563G>A
NP_065202.2:p.Arg188His
NM_020469.3:c.563G>A
NP_065202.2:p.Arg188His
Search 100 bp 5'
Search 100 bp 3'