ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA5305807
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs782786356
ExAC:
9:136131565 A / G
gnomAD v2:
9-136131565-A-G
gnomAD v4:
9-133256178-A-G
MyVariant Identifiers:
chr9:g.136131565A>G (hg19)
chr9:g.133256178A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256178A>G , CM000671.2:g.133256178A>G
GRCh38
NC_000009.11:g.136131565A>G , CM000671.1:g.136131565A>G
GRCh37
NC_000009.10:g.135121386A>G
NCBI36
NG_006669.1:g.21490T>C
NG_006669.2:g.24038T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000453660.4:n.582T>C
ENST00000647353.1:n.54-5026T>C
ENST00000651471.1:n.508T>C
ENST00000679909.1:c.28+18984T>C
ENSP00000506089.1:n.28+18984T>C
ENST00000453660.3:n.564T>C
ENST00000538324.2:c.550T>C
ENSP00000483018.1:p.Ser184Pro
ENST00000611156.4:c.550T>C
ENSP00000483265.1:p.Ser184Pro
NM_020469.2:c.553T>C
NP_065202.2:p.Ser185Pro
NM_020469.3:c.553T>C
NP_065202.2:p.Ser185Pro
Search 100 bp 5'
Search 100 bp 3'