Canonical Allele Identifier: CA390728063

Gene: TSHR

Linked Data

• ClinVar Variation Id: 2444338
• ClinVar RCV Id: RCV003153136
• dbSNP Id: rs774078708
• MyVariant Identifiers: chr14:g.81609917C>A (hg19) ; chr14:g.81143573C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81143573C>A , CM000676.2:g.81143573C>A	GRCh38
NC_000014.8:g.81609917C>A , CM000676.1:g.81609917C>A	GRCh37
NC_000014.7:g.80679670C>A	NCBI36
NG_009206.1:g.193049C>A , LRG_523:g.193049C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.1515C>A MANE Select	ENSP00000298171.2:p.Ser505Arg
ENST00000636454.1:n.1433C>A
ENST00000637447.1:c.418C>A
ENST00000298171.6:c.1515C>A	ENSP00000298171.2:p.Ser505Arg
ENST00000541158.6:c.1515C>A	ENSP00000441235.2:p.Ser505Arg
NM_000369.2:c.1515C>A , LRG_523t1:c.1515C>A	NP_000360.2:p.Ser505Arg
XM_005268037.3:c.1515C>A	XP_005268094.1:p.Ser505Arg
XM_011537119.1:c.1236C>A	XP_011535421.1:p.Ser412Arg
XR_245790.3:n.2086+21620G>T
XR_429385.2:n.853+21620G>T
XR_429386.2:n.854+21620G>T
XR_944075.1:n.865+21620G>T
XR_944076.1:n.861+21620G>T
XR_944077.1:n.865+21620G>T
XR_944078.1:n.865+21620G>T
XR_944079.1:n.855+21620G>T
XM_005268037.4:c.1515C>A	XP_005268094.1:p.Ser505Arg
XM_011537119.2:c.1236C>A	XP_011535421.1:p.Ser412Arg
XR_001751021.1:n.2753+21620G>T
XR_001751022.1:n.2753+21620G>T
XR_001751023.1:n.2753+21620G>T
XR_944075.3:n.929+21620G>T
NM_000369.4:c.1515C>A	NP_000360.2:p.Ser505Arg
NM_000369.5:c.1515C>A MANE Select	NP_000360.2:p.Ser505Arg