Canonical Allele Identifier: CA257404520

Gene: OSGEP

Linked Data

• dbSNP Id: rs888244040
• gnomAD v4: 14-20454805-A-C
• MyVariant Identifiers: chr14:g.20922964A>C (hg19) ; chr14:g.20454805A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20454805A>C , CM000676.2:g.20454805A>C	GRCh38
NC_000014.8:g.20922964A>C , CM000676.1:g.20922964A>C	GRCh37
NC_000014.7:g.19992804A>C	NCBI36
NG_008718.1:g.4675A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206542.9:c.-122T>G MANE Select	ENSP00000206542.4:n.-122T>G
ENST00000206542.8:c.-122T>G	ENSP00000206542.4:n.-122T>G
ENST00000553640.3:c.-122T>G	ENSP00000451580.1:n.-122T>G
ENST00000556252.1:n.249T>G
ENST00000556439.1:n.285T>G
NM_017807.3:c.-122T>G	NP_060277.1:n.-122T>G
XM_011536930.1:c.-183T>G	XP_011535232.1:n.-183T>G
XM_011536931.1:c.-418T>G	XP_011535233.1:n.-418T>G
XM_011536932.1:c.-422T>G	XP_011535234.1:n.-422T>G
NM_017807.4:c.-122T>G MANE Select	NP_060277.1:n.-122T>G