ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA5305787
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs782686085
ExAC:
9:136131491 G / C
gnomAD v2:
9-136131491-G-C
gnomAD v4:
9-133256104-G-C
MyVariant Identifiers:
chr9:g.136131491G>C (hg19)
chr9:g.133256104G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256104G>C , CM000671.2:g.133256104G>C
GRCh38
NC_000009.11:g.136131491G>C , CM000671.1:g.136131491G>C
GRCh37
NC_000009.10:g.135121312G>C
NCBI36
NG_006669.1:g.21564C>G
NG_006669.2:g.24112C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.656C>G
ENST00000647353.1:n.54-4952C>G
ENST00000679909.1:c.28+19058C>G
ENSP00000506089.1:n.28+19058C>G
ENST00000453660.3:n.638C>G
ENST00000538324.2:c.624C>G
ENSP00000483018.1:p.Cys208Trp
ENST00000611156.4:c.624C>G
ENSP00000483265.1:p.Cys208Trp
NM_020469.2:c.627C>G
NP_065202.2:p.Cys209Trp
NM_020469.3:c.627C>G
NP_065202.2:p.Cys209Trp
Search 100 bp 5'
Search 100 bp 3'