ClinGen Allele Registry
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Canonical Allele Identifier:
CA375684673
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs1834566081
gnomAD v3:
9-133255865-A-T
gnomAD v4:
9-133255865-A-T
MyVariant Identifiers:
chr9:g.136131252A>T (hg19)
chr9:g.133255865A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255865A>T , CM000671.2:g.133255865A>T
GRCh38
NC_000009.11:g.136131252A>T , CM000671.1:g.136131252A>T
GRCh37
NC_000009.10:g.135121073A>T
NCBI36
NG_006669.1:g.21803T>A
NG_006669.2:g.24351T>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.895T>A
ENST00000647353.1:n.54-4713T>A
ENST00000679909.1:c.28+19297T>A
ENSP00000506089.1:n.28+19297T>A
ENST00000453660.3:n.877T>A
ENST00000538324.2:c.863T>A
ENSP00000483018.1:p.Met288Lys
ENST00000611156.4:c.863T>A
ENSP00000483265.1:p.Met288Lys
NM_020469.2:c.866T>A
NP_065202.2:p.Met289Lys
NM_020469.3:c.866T>A
NP_065202.2:p.Met289Lys
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