ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA375685537
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs796755925
gnomAD v2:
9-136131423-A-G
gnomAD v4:
9-133256036-A-G
MyVariant Identifiers:
chr9:g.136131423A>G (hg19)
chr9:g.133256036A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256036A>G , CM000671.2:g.133256036A>G
GRCh38
NC_000009.11:g.136131423A>G , CM000671.1:g.136131423A>G
GRCh37
NC_000009.10:g.135121244A>G
NCBI36
NG_006669.1:g.21632T>C
NG_006669.2:g.24180T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.724T>C
ENST00000647353.1:n.54-4884T>C
ENST00000679909.1:c.28+19126T>C
ENSP00000506089.1:n.28+19126T>C
ENST00000453660.3:n.706T>C
ENST00000538324.2:c.692T>C
ENSP00000483018.1:p.Leu231Pro
ENST00000611156.4:c.692T>C
ENSP00000483265.1:p.Leu231Pro
NM_020469.2:c.695T>C
NP_065202.2:p.Leu232Pro
NM_020469.3:c.695T>C
NP_065202.2:p.Leu232Pro
Search 100 bp 5'
Search 100 bp 3'