Canonical Allele Identifier: CA118215
Gene: TSHR HGNC NCBI

Linked Data

ClinVar Variation Id: 6438
ClinVar RCV Id: RCV000006808
dbSNP Id: rs121908865

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.81087962G>A , CM000676.2:g.81087962G>A GRCh38
NC_000014.8:g.81554306G>A , CM000676.1:g.81554306G>A GRCh37
NC_000014.7:g.80624059G>A NCBI36
NG_009206.1:g.137438G>A , LRG_523:g.137438G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000298171.7:c.326G>A MANE Select ENSP00000298171.2:p.Arg109Gln
ENST00000636454.1:n.244G>A
ENST00000298171.6:c.326G>A ENSP00000298171.2:p.Arg109Gln
ENST00000342443.10:c.326G>A ENSP00000340113.6:p.Arg109Gln
ENST00000541158.6:c.326G>A ENSP00000441235.2:p.Arg109Gln
ENST00000554263.5:c.326G>A ENSP00000451202.1:p.Arg109Gln
ENST00000554435.1:c.326G>A ENSP00000450549.1:p.Arg109Gln
ENST00000555326.5:c.*36G>A ENSP00000451092.1:n.*36G>A
NM_000369.2:c.326G>A , LRG_523t1:c.326G>A NP_000360.2:p.Arg109Gln
NM_001018036.2:c.326G>A NP_001018046.1:p.Arg109Gln
NM_001142626.2:c.326G>A NP_001136098.1:p.Arg109Gln
XM_005268037.3:c.326G>A XP_005268094.1:p.Arg109Gln
XM_005268039.1:c.326G>A XP_005268096.1:p.Arg109Gln
XM_006720245.1:c.326G>A XP_006720308.1:p.Arg109Gln
XM_011537119.1:c.47G>A XP_011535421.1:p.Arg16Gln
XR_245790.3:n.2481-310C>T
XR_944075.1:n.1354-310C>T
XR_944076.1:n.1256-310C>T
XR_944077.1:n.1260-310C>T
XR_944078.1:n.1260-310C>T
XM_005268037.4:c.326G>A XP_005268094.1:p.Arg109Gln
XM_011537119.2:c.47G>A XP_011535421.1:p.Arg16Gln
XR_001751018.2:n.794-310C>T
XR_001751019.2:n.700-310C>T
XR_001751020.2:n.700-310C>T
XR_001751021.1:n.3242-310C>T
XR_001751022.1:n.3148-310C>T
XR_001751023.1:n.3281-310C>T
XR_001751024.2:n.794-310C>T
XR_944075.3:n.1418-310C>T
NM_000369.4:c.326G>A NP_000360.2:p.Arg109Gln
NM_001018036.3:c.326G>A NP_001018046.1:p.Arg109Gln
NM_001142626.3:c.326G>A NP_001136098.1:p.Arg109Gln
NM_000369.5:c.326G>A MANE Select NP_000360.2:p.Arg109Gln