Canonical Allele Identifier: CA346772667

Gene: FSHR

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48990629G>C , CM000664.2:g.48990629G>C	GRCh38
NC_000002.11:g.49217768G>C , CM000664.1:g.49217768G>C	GRCh37
NC_000002.10:g.49071272G>C	NCBI36
NG_008146.1:g.168863C>G , LRG_536:g.168863C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000145.4:c.383C>G MANE Select	NP_000136.2:p.Ser128Cys
ENST00000406846.7:c.383C>G MANE Select	ENSP00000384708.2:p.Ser128Cys
NM_000145.3:c.383C>G , LRG_536t1:c.383C>G	NP_000136.2:p.Ser128Cys
NM_181446.2:c.383C>G	NP_852111.2:p.Ser128Cys
NM_181446.3:c.383C>G	NP_852111.2:p.Ser128Cys
ENST00000304421.8:c.383C>G	ENSP00000306780.4:p.Ser128Cys
ENST00000406846.6:c.383C>G	ENSP00000384708.2:p.Ser128Cys
ENST00000419927.1:c.*175C>G	ENSP00000405775.1:n.*175C>G
ENST00000454032.5:c.383C>G	ENSP00000415504.1:p.Ser128Cys
ENST00000469138.5:n.144C>G
XM_011532733.1:c.383C>G	XP_011531035.1:p.Ser128Cys
XM_011532733.2:c.383C>G	XP_011531035.1:p.Ser128Cys
XM_011532734.1:c.50C>G	XP_011531036.1:p.Ser17Cys
XM_011532734.2:c.50C>G	XP_011531036.1:p.Ser17Cys
XM_011532735.1:c.-512C>G	XP_011531037.1:n.-512C>G
XM_011532735.2:c.-512C>G	XP_011531037.1:n.-512C>G
XM_011532736.1:c.-410C>G	XP_011531038.1:n.-410C>G
XM_011532736.2:c.-410C>G	XP_011531038.1:n.-410C>G
XM_011532737.1:c.383C>G	XP_011531039.1:p.Ser128Cys
XM_011532738.1:c.383C>G	XP_011531040.1:p.Ser128Cys
XM_011532739.1:c.383C>G	XP_011531041.1:p.Ser128Cys
XM_011532740.1:c.383C>G	XP_011531042.1:p.Ser128Cys