Canonical Allele Identifier: CA2624006038

Gene: OSGEP

Linked Data

• gnomAD v4: 14-20454830-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20454830A>C , CM000676.2:g.20454830A>C	GRCh38
NC_000014.8:g.20922989A>C , CM000676.1:g.20922989A>C	GRCh37
NC_000014.7:g.19992829A>C	NCBI36
NG_008718.1:g.4700A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206542.8:c.-147T>G	ENSP00000206542.4:n.-147T>G
ENST00000556252.1:n.224T>G
ENST00000556439.1:n.260T>G
NM_017807.3:c.-147T>G	NP_060277.1:n.-147T>G
XM_011536930.1:c.-208T>G	XP_011535232.1:n.-208T>G
XM_011536931.1:c.-443T>G	XP_011535233.1:n.-443T>G