Canonical Allele Identifier: CA13953705
Gene: OSGEP HGNC NCBI

Linked Data

ClinVar Variation Id: 1221240
ClinVar RCV Id: RCV001597429
dbSNP Id: rs1878703
gnomAD v2: 14-20920749-C-G
gnomAD v3: 14-20452590-C-G
gnomAD v4: 14-20452590-C-G
MyVariant Identifiers: chr14:g.20920749C>G (hg19) chr14:g.20452590C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20452590C>G , CM000676.2:g.20452590C>G GRCh38
NC_000014.8:g.20920749C>G , CM000676.1:g.20920749C>G GRCh37
NC_000014.7:g.19990589C>G NCBI36
NG_008718.1:g.2460C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000206542.9:c.116-142G>C MANE Select ENSP00000206542.4:n.116-142G>C
ENST00000206542.8:c.116-142G>C ENSP00000206542.4:n.116-142G>C
ENST00000553640.3:c.116-142G>C ENSP00000451580.1:n.116-142G>C
ENST00000554699.1:n.226-142G>C
ENST00000556252.1:n.486-142G>C
ENST00000556439.1:n.522-142G>C
NM_017807.3:c.116-142G>C NP_060277.1:n.116-142G>C
XM_011536930.1:c.59-142G>C XP_011535232.1:n.59-142G>C
XM_011536931.1:c.-181-142G>C XP_011535233.1:n.-181-142G>C
XM_011536932.1:c.-181-142G>C XP_011535234.1:n.-181-142G>C
NM_017807.4:c.116-142G>C MANE Select NP_060277.1:n.116-142G>C
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