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Canonical Allele Identifier:
CA5305728
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs41302905
ExAC:
9:136131316 C / T
gnomAD v2:
9-136131316-C-T
gnomAD v3:
9-133255929-C-T
gnomAD v4:
9-133255929-C-T
MyVariant Identifiers:
chr9:g.136131316C>T (hg19)
chr9:g.133255929C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255929C>T , CM000671.2:g.133255929C>T
GRCh38
NC_000009.11:g.136131316C>T , CM000671.1:g.136131316C>T
GRCh37
NC_000009.10:g.135121137C>T
NCBI36
NG_006669.1:g.21739G>A
NG_006669.2:g.24287G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000453660.4:n.831G>A
ENST00000647353.1:n.54-4777G>A
ENST00000679909.1:c.28+19233G>A
ENSP00000506089.1:n.28+19233G>A
ENST00000453660.3:n.813G>A
ENST00000538324.2:c.799G>A
ENSP00000483018.1:p.Gly267Arg
ENST00000611156.4:c.799G>A
ENSP00000483265.1:p.Gly267Arg
NM_020469.2:c.802G>A
NP_065202.2:p.Gly268Arg
NM_020469.3:c.802G>A
NP_065202.2:p.Gly268Arg
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