ClinGen Allele Registry
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Canonical Allele Identifier:
CA375686302
Gene: ABO
HGNC
NCBI
Linked Data
gnomAD v4:
9-133256266-C-A
MyVariant Identifiers:
chr9:g.136131653C>A (hg19)
chr9:g.133256266C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256266C>A , CM000671.2:g.133256266C>A
GRCh38
NC_000009.11:g.136131653C>A , CM000671.1:g.136131653C>A
GRCh37
NC_000009.10:g.135121474C>A
NCBI36
NG_006669.1:g.21402G>T
NG_006669.2:g.23950G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000453660.4:n.494G>T
ENST00000647353.1:n.54-5114G>T
ENST00000651471.1:n.420G>T
ENST00000679909.1:c.28+18896G>T
ENSP00000506089.1:n.28+18896G>T
ENST00000453660.3:n.476G>T
ENST00000538324.2:c.462G>T
ENSP00000483018.1:p.Gln154His
ENST00000611156.4:c.462G>T
ENSP00000483265.1:p.Gln154His
NM_020469.2:c.465G>T
NP_065202.2:p.Gln155His
NM_020469.3:c.465G>T
NP_065202.2:p.Gln155His
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