Canonical Allele Identifier: CA1248756753
Gene: FSHR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48974189A>C , CM000664.2:g.48974189A>C GRCh38
NC_000002.11:g.49201328A>C , CM000664.1:g.49201328A>C GRCh37
NC_000002.10:g.49054832A>C NCBI36
NG_008146.1:g.185303T>G , LRG_536:g.185303T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000406846.7:c.669-5306T>G MANE Select ENSP00000384708.2:n.669-5306T>G
ENST00000304421.8:c.591-5306T>G ENSP00000306780.4:n.591-5306T>G
ENST00000406846.6:c.669-5306T>G ENSP00000384708.2:n.669-5306T>G
ENST00000454032.5:c.668+8723T>G ENSP00000415504.1:n.668+8723T>G
ENST00000469138.5:n.430-5306T>G
NM_000145.3:c.669-5306T>G , LRG_536t1:c.669-5306T>G NP_000136.2:n.669-5306T>G
NM_181446.2:c.591-5306T>G NP_852111.2:n.591-5306T>G
XM_011532733.1:c.669-5103T>G XP_011531035.1:n.669-5103T>G
XM_011532734.1:c.336-5103T>G XP_011531036.1:n.336-5103T>G
XM_011532735.1:c.-226-5103T>G XP_011531037.1:n.-226-5103T>G
XM_011532736.1:c.-124-5306T>G XP_011531038.1:n.-124-5306T>G
XM_011532737.1:c.669-5103T>G XP_011531039.1:n.669-5103T>G
XM_011532738.1:c.669-5103T>G XP_011531040.1:n.669-5103T>G
XM_011532739.1:c.669-5103T>G XP_011531041.1:n.669-5103T>G
XM_011532740.1:c.669-5103T>G XP_011531042.1:n.669-5103T>G
XM_011532733.2:c.669-5103T>G XP_011531035.1:n.669-5103T>G
XM_011532734.2:c.336-5103T>G XP_011531036.1:n.336-5103T>G
XM_011532735.2:c.-226-5103T>G XP_011531037.1:n.-226-5103T>G
XM_011532736.2:c.-124-5306T>G XP_011531038.1:n.-124-5306T>G
NM_000145.4:c.669-5306T>G MANE Select NP_000136.2:n.669-5306T>G
NM_181446.3:c.591-5306T>G NP_852111.2:n.591-5306T>G