ClinGen Allele Registry
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Canonical Allele Identifier:
CA375685306
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs1300048082
gnomAD v2:
9-136131384-G-T
gnomAD v4:
9-133255997-G-T
MyVariant Identifiers:
chr9:g.136131384G>T (hg19)
chr9:g.133255997G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255997G>T , CM000671.2:g.133255997G>T
GRCh38
NC_000009.11:g.136131384G>T , CM000671.1:g.136131384G>T
GRCh37
NC_000009.10:g.135121205G>T
NCBI36
NG_006669.1:g.21671C>A
NG_006669.2:g.24219C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000453660.4:n.763C>A
ENST00000647353.1:n.54-4845C>A
ENST00000679909.1:c.28+19165C>A
ENSP00000506089.1:n.28+19165C>A
ENST00000453660.3:n.745C>A
ENST00000538324.2:c.731C>A
ENSP00000483018.1:p.Thr244Asn
ENST00000611156.4:c.731C>A
ENSP00000483265.1:p.Thr244Asn
NM_020469.2:c.734C>A
NP_065202.2:p.Thr245Asn
NM_020469.3:c.734C>A
NP_065202.2:p.Thr245Asn
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