ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA5305703
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs781862054
ExAC:
9:136131253 T / C
gnomAD v2:
9-136131253-T-C
gnomAD v3:
9-133255866-T-C
gnomAD v4:
9-133255866-T-C
MyVariant Identifiers:
chr9:g.136131253T>C (hg19)
chr9:g.133255866T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255866T>C , CM000671.2:g.133255866T>C
GRCh38
NC_000009.11:g.136131253T>C , CM000671.1:g.136131253T>C
GRCh37
NC_000009.10:g.135121074T>C
NCBI36
NG_006669.1:g.21802A>G
NG_006669.2:g.24350A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.894A>G
ENST00000647353.1:n.54-4714A>G
ENST00000679909.1:c.28+19296A>G
ENSP00000506089.1:n.28+19296A>G
ENST00000453660.3:n.876A>G
ENST00000538324.2:c.862A>G
ENSP00000483018.1:p.Met288Val
ENST00000611156.4:c.862A>G
ENSP00000483265.1:p.Met288Val
NM_020469.2:c.865A>G
NP_065202.2:p.Met289Val
NM_020469.3:c.865A>G
NP_065202.2:p.Met289Val
Search 100 bp 5'
Search 100 bp 3'