ClinGen Allele Registry
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Canonical Allele Identifier:
CA5305716
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs375935768
ExAC:
9:136131294 T / C
gnomAD v2:
9-136131294-T-C
gnomAD v3:
9-133255907-T-C
gnomAD v4:
9-133255907-T-C
MyVariant Identifiers:
chr9:g.136131294T>C (hg19)
chr9:g.133255907T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255907T>C , CM000671.2:g.133255907T>C
GRCh38
NC_000009.11:g.136131294T>C , CM000671.1:g.136131294T>C
GRCh37
NC_000009.10:g.135121115T>C
NCBI36
NG_006669.1:g.21761A>G
NG_006669.2:g.24309A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.853A>G
ENST00000647353.1:n.54-4755A>G
ENST00000679909.1:c.28+19255A>G
ENSP00000506089.1:n.28+19255A>G
ENST00000453660.3:n.835A>G
ENST00000538324.2:c.821A>G
ENSP00000483018.1:p.Gln274Arg
ENST00000611156.4:c.821A>G
ENSP00000483265.1:p.Gln274Arg
NM_020469.2:c.824A>G
NP_065202.2:p.Gln275Arg
NM_020469.3:c.824A>G
NP_065202.2:p.Gln275Arg
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