Canonical Allele Identifier: CA13973843
Gene: OSGEP HGNC NCBI

Linked Data

ClinVar Variation Id: 1236627
ClinVar RCV Id: RCV001639142
dbSNP Id: rs3120063
gnomAD v2: 14-20923007-C-A
gnomAD v3: 14-20454848-C-A
gnomAD v4: 14-20454848-C-A
MyVariant Identifiers: chr14:g.20923007C>A (hg19) chr14:g.20454848C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20454848C>A , CM000676.2:g.20454848C>A GRCh38
NC_000014.8:g.20923007C>A , CM000676.1:g.20923007C>A GRCh37
NC_000014.7:g.19992847C>A NCBI36
NG_008718.1:g.4718C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206542.8:c.-165G>T ENSP00000206542.4:n.-165G>T
ENST00000556252.1:n.206G>T
ENST00000556439.1:n.242G>T
NM_017807.3:c.-165G>T NP_060277.1:n.-165G>T
XM_011536930.1:c.-226G>T XP_011535232.1:n.-226G>T
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