ClinGen Allele Registry
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Canonical Allele Identifier:
CA5305708
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs782313879
ExAC:
9:136131276 G / A
gnomAD v2:
9-136131276-G-A
gnomAD v4:
9-133255889-G-A
MyVariant Identifiers:
chr9:g.136131276G>A (hg19)
chr9:g.133255889G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255889G>A , CM000671.2:g.133255889G>A
GRCh38
NC_000009.11:g.136131276G>A , CM000671.1:g.136131276G>A
GRCh37
NC_000009.10:g.135121097G>A
NCBI36
NG_006669.1:g.21779C>T
NG_006669.2:g.24327C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.871C>T
ENST00000647353.1:n.54-4737C>T
ENST00000679909.1:c.28+19273C>T
ENSP00000506089.1:n.28+19273C>T
ENST00000453660.3:n.853C>T
ENST00000538324.2:c.839C>T
ENSP00000483018.1:p.Thr280Ile
ENST00000611156.4:c.839C>T
ENSP00000483265.1:p.Thr280Ile
NM_020469.2:c.842C>T
NP_065202.2:p.Thr281Ile
NM_020469.3:c.842C>T
NP_065202.2:p.Thr281Ile
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