Canonical Allele Identifier: CA487339693
Gene: TSHR HGNC NCBI

Linked Data

dbSNP Id: rs2139910065
MyVariant Identifiers: chr14:g.81534637A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.81068293A>C , CM000676.2:g.81068293A>C GRCh38
NC_000014.8:g.81534637A>C , CM000676.1:g.81534637A>C GRCh37
NC_000014.7:g.80604390A>C NCBI36
NG_009206.1:g.117769A>C , LRG_523:g.117769A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298171.7:c.282A>C MANE Select ENSP00000298171.2:p.Ser94=
ENST00000298171.6:c.282A>C ENSP00000298171.2:p.Ser94=
ENST00000342443.10:c.282A>C ENSP00000340113.6:p.Ser94=
ENST00000541158.6:c.282A>C ENSP00000441235.2:p.Ser94=
ENST00000553763.1:n.382A>C
ENST00000554263.5:c.282A>C ENSP00000451202.1:p.Ser94=
ENST00000554435.1:c.282A>C ENSP00000450549.1:p.Ser94=
ENST00000555326.5:c.282A>C ENSP00000451092.1:p.Ser94=
NM_000369.2:c.282A>C , LRG_523t1:c.282A>C NP_000360.2:p.Ser94=
NM_001018036.2:c.282A>C NP_001018046.1:p.Ser94=
NM_001142626.2:c.282A>C NP_001136098.1:p.Ser94=
XM_005268037.3:c.282A>C XP_005268094.1:p.Ser94=
XM_005268039.1:c.282A>C XP_005268096.1:p.Ser94=
XM_006720245.1:c.282A>C XP_006720308.1:p.Ser94=
XM_011537119.1:c.-47A>C XP_011535421.1:n.-47A>C
XR_245790.3:n.3676-14477T>G
XR_944075.1:n.2549-14477T>G
XR_944076.1:n.1442-14477T>G
XR_944077.1:n.2455-14477T>G
XR_944078.1:n.2455-14477T>G
XM_005268037.4:c.282A>C XP_005268094.1:p.Ser94=
XM_011537119.2:c.-47A>C XP_011535421.1:n.-47A>C
XR_001751018.2:n.1989-14477T>G
XR_001751019.2:n.1895-14477T>G
XR_001751020.2:n.886-14477T>G
XR_001751021.1:n.4437-14477T>G
XR_001751022.1:n.3334-14477T>G
XR_001751023.1:n.4476-14477T>G
XR_001751024.2:n.1989-14477T>G
XR_944075.3:n.2613-14477T>G
NM_000369.4:c.282A>C NP_000360.2:p.Ser94=
NM_001018036.3:c.282A>C NP_001018046.1:p.Ser94=
NM_001142626.3:c.282A>C NP_001136098.1:p.Ser94=
NM_000369.5:c.282A>C MANE Select NP_000360.2:p.Ser94=