Canonical Allele Identifier: CA118263
Gene: TSHR HGNC NCBI

Linked Data

ClinVar Variation Id: 6455
ClinVar RCV Id: RCV000006826
dbSNP Id: rs121908881

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.81143488C>T , CM000676.2:g.81143488C>T GRCh38
NC_000014.8:g.81609832C>T , CM000676.1:g.81609832C>T GRCh37
NC_000014.7:g.80679585C>T NCBI36
NG_009206.1:g.192964C>T , LRG_523:g.192964C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000298171.7:c.1430C>T MANE Select ENSP00000298171.2:p.Thr477Ile
ENST00000636454.1:n.1348C>T
ENST00000637447.1:n.333C>T
ENST00000298171.6:c.1430C>T ENSP00000298171.2:p.Thr477Ile
ENST00000541158.6:c.1430C>T ENSP00000441235.2:p.Thr477Ile
NM_000369.2:c.1430C>T , LRG_523t1:c.1430C>T NP_000360.2:p.Thr477Ile
XM_005268037.3:c.1430C>T XP_005268094.1:p.Thr477Ile
XM_011537119.1:c.1151C>T XP_011535421.1:p.Thr384Ile
XR_245790.3:n.2086+21705G>A
XR_429385.2:n.853+21705G>A
XR_429386.2:n.854+21705G>A
XR_944075.1:n.865+21705G>A
XR_944076.1:n.861+21705G>A
XR_944077.1:n.865+21705G>A
XR_944078.1:n.865+21705G>A
XR_944079.1:n.855+21705G>A
XM_005268037.4:c.1430C>T XP_005268094.1:p.Thr477Ile
XM_011537119.2:c.1151C>T XP_011535421.1:p.Thr384Ile
XR_001751021.1:n.2753+21705G>A
XR_001751022.1:n.2753+21705G>A
XR_001751023.1:n.2753+21705G>A
XR_944075.3:n.929+21705G>A
NM_000369.4:c.1430C>T NP_000360.2:p.Thr477Ile
NM_000369.5:c.1430C>T MANE Select NP_000360.2:p.Thr477Ile