Canonical Allele Identifier: CA7294603
Gene: TSHR HGNC NCBI

Linked Data

dbSNP Id: rs750689462

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.81144243A>T , CM000676.2:g.81144243A>T GRCh38
NC_000014.8:g.81610587A>T , CM000676.1:g.81610587A>T GRCh37
NC_000014.7:g.80680340A>T NCBI36
NG_009206.1:g.193719A>T , LRG_523:g.193719A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000298171.7:c.2185A>T MANE Select ENSP00000298171.2:p.Arg729Trp
ENST00000637447.1:c.1088A>T
ENST00000298171.6:c.2185A>T ENSP00000298171.2:p.Arg729Trp
ENST00000541158.6:c.2185A>T ENSP00000441235.2:p.Arg729Trp
NM_000369.2:c.2185A>T , LRG_523t1:c.2185A>T NP_000360.2:p.Arg729Trp
XM_005268037.3:c.2185A>T XP_005268094.1:p.Arg729Trp
XM_011537119.1:c.1906A>T XP_011535421.1:p.Arg636Trp
XR_245790.3:n.2086+20950T>A
XR_429385.2:n.853+20950T>A
XR_429386.2:n.854+20950T>A
XR_944075.1:n.865+20950T>A
XR_944076.1:n.861+20950T>A
XR_944077.1:n.865+20950T>A
XR_944078.1:n.865+20950T>A
XR_944079.1:n.855+20950T>A
XM_005268037.4:c.2185A>T XP_005268094.1:p.Arg729Trp
XM_011537119.2:c.1906A>T XP_011535421.1:p.Arg636Trp
XR_001751021.1:n.2753+20950T>A
XR_001751022.1:n.2753+20950T>A
XR_001751023.1:n.2753+20950T>A
XR_944075.3:n.929+20950T>A
NM_000369.4:c.2185A>T NP_000360.2:p.Arg729Trp
NM_000369.5:c.2185A>T MANE Select NP_000360.2:p.Arg729Trp