ClinGen Allele Registry
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Canonical Allele Identifier:
CA5305677
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs781784520
ExAC:
9:136131166 C / A
gnomAD v2:
9-136131166-C-A
gnomAD v3:
9-133255779-C-A
gnomAD v4:
9-133255779-C-A
MyVariant Identifiers:
chr9:g.136131166C>A (hg19)
chr9:g.133255779C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255779C>A , CM000671.2:g.133255779C>A
GRCh38
NC_000009.11:g.136131166C>A , CM000671.1:g.136131166C>A
GRCh37
NC_000009.10:g.135120987C>A
NCBI36
NG_006669.1:g.21889G>T
NG_006669.2:g.24437G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.981G>T
ENST00000647353.1:n.54-4627G>T
ENST00000679909.1:c.28+19383G>T
ENSP00000506089.1:n.28+19383G>T
ENST00000453660.3:n.963G>T
ENST00000538324.2:c.949G>T
ENSP00000483018.1:p.Val317Leu
ENST00000611156.4:c.949G>T
ENSP00000483265.1:p.Val317Leu
NM_020469.2:c.952G>T
NP_065202.2:p.Val318Leu
NM_020469.3:c.952G>T
NP_065202.2:p.Val318Leu
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