Canonical Allele Identifier: CA346770367

Gene: FSHR

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48982918A>G , CM000664.2:g.48982918A>G	GRCh38
NC_000002.11:g.49210057A>G , CM000664.1:g.49210057A>G	GRCh37
NC_000002.10:g.49063561A>G	NCBI36
NG_008146.1:g.176574T>C , LRG_536:g.176574T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000145.4:c.662T>C MANE Select	NP_000136.2:p.Val221Ala
ENST00000406846.7:c.662T>C MANE Select	ENSP00000384708.2:p.Val221Ala
NM_000145.3:c.662T>C , LRG_536t1:c.662T>C	NP_000136.2:p.Val221Ala
NM_181446.2:c.584T>C	NP_852111.2:p.Val195Ala
NM_181446.3:c.584T>C	NP_852111.2:p.Val195Ala
ENST00000304421.8:c.584T>C	ENSP00000306780.4:p.Val195Ala
ENST00000406846.6:c.662T>C	ENSP00000384708.2:p.Val221Ala
ENST00000454032.5:c.662T>C	ENSP00000415504.1:p.Val221Ala
ENST00000469138.5:n.423T>C
XM_011532733.1:c.662T>C	XP_011531035.1:p.Val221Ala
XM_011532733.2:c.662T>C	XP_011531035.1:p.Val221Ala
XM_011532734.1:c.329T>C	XP_011531036.1:p.Val110Ala
XM_011532734.2:c.329T>C	XP_011531036.1:p.Val110Ala
XM_011532735.1:c.-233T>C	XP_011531037.1:n.-233T>C
XM_011532735.2:c.-233T>C	XP_011531037.1:n.-233T>C
XM_011532736.1:c.-131T>C	XP_011531038.1:n.-131T>C
XM_011532736.2:c.-131T>C	XP_011531038.1:n.-131T>C
XM_011532737.1:c.662T>C	XP_011531039.1:p.Val221Ala
XM_011532738.1:c.662T>C	XP_011531040.1:p.Val221Ala
XM_011532739.1:c.662T>C	XP_011531041.1:p.Val221Ala
XM_011532740.1:c.662T>C	XP_011531042.1:p.Val221Ala