Canonical Allele Identifier: CA346766947
Gene: FSHR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48963061G>A , CM000664.2:g.48963061G>A GRCh38
NC_000002.11:g.49190200G>A , CM000664.1:g.49190200G>A GRCh37
NC_000002.10:g.49043704G>A NCBI36
NG_008146.1:g.196431C>T , LRG_536:g.196431C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000406846.7:c.1760C>T MANE Select ENSP00000384708.2:p.Pro587Leu
ENST00000304421.8:c.1682C>T ENSP00000306780.4:p.Pro561Leu
ENST00000406846.6:c.1760C>T ENSP00000384708.2:p.Pro587Leu
NM_000145.3:c.1760C>T , LRG_536t1:c.1760C>T NP_000136.2:p.Pro587Leu
NM_181446.2:c.1682C>T NP_852111.2:p.Pro561Leu
XM_011532733.1:c.1862C>T XP_011531035.1:p.Pro621Leu
XM_011532734.1:c.1529C>T XP_011531036.1:p.Pro510Leu
XM_011532735.1:c.968C>T XP_011531037.1:p.Pro323Leu
XM_011532736.1:c.968C>T XP_011531038.1:p.Pro323Leu
XM_011532737.1:c.956+5637C>T XP_011531039.1:n.956+5637C>T
XM_011532738.1:c.956+5637C>T XP_011531040.1:n.956+5637C>T
XM_011532739.1:c.956+5637C>T XP_011531041.1:n.956+5637C>T
XM_011532733.2:c.1862C>T XP_011531035.1:p.Pro621Leu
XM_011532734.2:c.1529C>T XP_011531036.1:p.Pro510Leu
XM_011532735.2:c.968C>T XP_011531037.1:p.Pro323Leu
XM_011532736.2:c.968C>T XP_011531038.1:p.Pro323Leu
NM_000145.4:c.1760C>T MANE Select NP_000136.2:p.Pro587Leu
NM_181446.3:c.1682C>T NP_852111.2:p.Pro561Leu