ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA5305779
Gene: ABO
HGNC
NCBI
Linked Data
ClinVar Variation Id:
812632
ClinVar RCV Id:
RCV001003450
dbSNP Id:
rs8176740
ExAC:
9:136131472 A / T
gnomAD v2:
9-136131472-A-T
gnomAD v3:
9-133256085-A-T
gnomAD v4:
9-133256085-A-T
MyVariant Identifiers:
chr9:g.136131472A>T (hg19)
chr9:g.133256085A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256085A>T , CM000671.2:g.133256085A>T
GRCh38
NC_000009.11:g.136131472A>T , CM000671.1:g.136131472A>T
GRCh37
NC_000009.10:g.135121293A>T
NCBI36
NG_006669.1:g.21583T>A
NG_006669.2:g.24131T>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000453660.4:n.675T>A
ENST00000647353.1:n.54-4933T>A
ENST00000679909.1:c.28+19077T>A
ENSP00000506089.1:n.28+19077T>A
ENST00000453660.3:n.657T>A
ENST00000538324.2:c.643T>A
ENSP00000483018.1:p.Phe215Ile
ENST00000611156.4:c.643T>A
ENSP00000483265.1:p.Phe215Ile
NM_020469.2:c.646T>A
NP_065202.2:p.Phe216Ile
NM_020469.3:c.646T>A
NP_065202.2:p.Phe216Ile
Search 100 bp 5'
Search 100 bp 3'