ClinGen Allele Registry
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Canonical Allele Identifier:
CA5305911
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs781999986
ExAC:
9:136132874 G / A
gnomAD v2:
9-136132874-G-A
gnomAD v4:
9-133257487-G-A
MyVariant Identifiers:
chr9:g.136132874G>A (hg19)
chr9:g.133257487G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133257487G>A , CM000671.2:g.133257487G>A
GRCh38
NC_000009.11:g.136132874G>A , CM000671.1:g.136132874G>A
GRCh37
NC_000009.10:g.135122695G>A
NCBI36
NG_006669.1:g.20181C>T
NG_006669.2:g.22729C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000453660.4:n.325C>T
ENST00000647353.1:n.54-6335C>T
ENST00000651471.1:n.329+555C>T
ENST00000679909.1:c.28+17675C>T
ENSP00000506089.1:n.28+17675C>T
ENST00000453660.3:n.307C>T
ENST00000538324.2:c.293C>T
ENSP00000483018.1:p.Thr98Ile
ENST00000611156.4:c.293C>T
ENSP00000483265.1:p.Thr98Ile
NM_020469.2:c.296C>T
NP_065202.2:p.Thr99Ile
NM_020469.3:c.296C>T
NP_065202.2:p.Thr99Ile
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