Canonical Allele Identifier: CA7294161

Gene: TSHR

Linked Data

• ClinVar Variation Id: 3053994
• ClinVar RCV Id: RCV004545718
• dbSNP Id: rs748980987
• ExAC: 14:81558887 C / A
• gnomAD v2: 14-81558887-C-A
• gnomAD v4: 14-81092543-C-A
• MyVariant Identifiers: chr14:g.81558887C>A (hg19) ; chr14:g.81092543C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81092543C>A , CM000676.2:g.81092543C>A	GRCh38
NC_000014.8:g.81558887C>A , CM000676.1:g.81558887C>A	GRCh37
NC_000014.7:g.80628640C>A	NCBI36
NG_009206.1:g.142019C>A , LRG_523:g.142019C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.480C>A MANE Select	ENSP00000298171.2:p.Asp160Glu
ENST00000636454.1:n.398C>A
ENST00000298171.6:c.480C>A	ENSP00000298171.2:p.Asp160Glu
ENST00000342443.10:c.480C>A	ENSP00000340113.6:p.Asp160Glu
ENST00000541158.6:c.480C>A	ENSP00000441235.2:p.Asp160Glu
ENST00000554263.5:c.480C>A	ENSP00000451202.1:p.Asp160Glu
ENST00000554435.1:c.480C>A	ENSP00000450549.1:p.Asp160Glu
NM_000369.2:c.480C>A , LRG_523t1:c.480C>A	NP_000360.2:p.Asp160Glu
NM_001018036.2:c.480C>A	NP_001018046.1:p.Asp160Glu
NM_001142626.2:c.480C>A	NP_001136098.1:p.Asp160Glu
XM_005268037.3:c.480C>A	XP_005268094.1:p.Asp160Glu
XM_005268039.1:c.480C>A	XP_005268096.1:p.Asp160Glu
XM_006720245.1:c.480C>A	XP_006720308.1:p.Asp160Glu
XM_011537119.1:c.201C>A	XP_011535421.1:p.Asp67Glu
XR_245790.3:n.2480+1039G>T
XR_944075.1:n.1260-136G>T
XR_944076.1:n.1255+1039G>T
XR_944077.1:n.1259+1039G>T
XR_944078.1:n.1259+1039G>T
XM_005268037.4:c.480C>A	XP_005268094.1:p.Asp160Glu
XM_011537119.2:c.201C>A	XP_011535421.1:p.Asp67Glu
XR_001751018.2:n.700-136G>T
XR_001751019.2:n.699+1039G>T
XR_001751020.2:n.699+1039G>T
XR_001751021.1:n.3148-136G>T
XR_001751022.1:n.3147+1039G>T
XR_001751023.1:n.3280+1039G>T
XR_001751024.2:n.700-136G>T
XR_944075.3:n.1324-136G>T
NM_000369.4:c.480C>A	NP_000360.2:p.Asp160Glu
NM_001018036.3:c.480C>A	NP_001018046.1:p.Asp160Glu
NM_001142626.3:c.480C>A	NP_001136098.1:p.Asp160Glu
NM_000369.5:c.480C>A MANE Select	NP_000360.2:p.Asp160Glu