Canonical Allele Identifier: CA7081183
Gene: OSGEP HGNC NCBI

Linked Data

ClinVar Variation Id: 444888
ClinVar RCV Id: RCV000512933 RCV001857858
dbSNP Id: rs778931753
ExAC: 14:20917150 C / G
gnomAD v2: 14-20917150-C-G
gnomAD v3: 14-20448991-C-G
gnomAD v4: 14-20448991-C-G
MyVariant Identifiers: chr14:g.20917150C>G (hg19) chr14:g.20448991C>G (hg38)
PubMed: PMID:28805828
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20448991C>G , CM000676.2:g.20448991C>G GRCh38
NC_000014.8:g.20917150C>G , CM000676.1:g.20917150C>G GRCh37
NC_000014.7:g.19986990C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000206542.9:c.530G>C MANE Select ENSP00000206542.4:p.Gly177Ala
ENST00000206542.8:c.530G>C ENSP00000206542.4:p.Gly177Ala
ENST00000554249.5:n.408G>C
ENST00000554915.1:n.180G>C
ENST00000555223.5:c.450G>C
ENST00000555656.5:n.1889G>C
ENST00000555785.2:n.126G>C
ENST00000556124.3:n.567G>C
NM_017807.3:c.530G>C NP_060277.1:p.Gly177Ala
XM_011536930.1:c.473G>C XP_011535232.1:p.Gly158Ala
XM_011536931.1:c.287G>C XP_011535233.1:p.Gly96Ala
XM_011536932.1:c.287G>C XP_011535234.1:p.Gly96Ala
NM_017807.4:c.530G>C MANE Select NP_060277.1:p.Gly177Ala
Search 100 bp 5'
Search 100 bp 3'