Canonical Allele Identifier: CA7294253

Gene: TSHR

Linked Data

• ClinVar Variation Id: 1342855
• ClinVar RCV Id: RCV001840957 ; RCV001840958 ; RCV001840959
• dbSNP Id: rs28516678
• ExAC: 14:81574844 T / A
• gnomAD v2: 14-81574844-T-A
• gnomAD v3: 14-81108500-T-A
• gnomAD v4: 14-81108500-T-A
• MyVariant Identifiers: chr14:g.81574844T>A (hg19) ; chr14:g.81108500T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81108500T>A , CM000676.2:g.81108500T>A	GRCh38
NC_000014.8:g.81574844T>A , CM000676.1:g.81574844T>A	GRCh37
NC_000014.7:g.80644597T>A	NCBI36
NG_009206.1:g.157976T>A , LRG_523:g.157976T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.692+48T>A MANE Select	ENSP00000298171.2:n.692+48T>A
ENST00000636454.1:n.610+48T>A
ENST00000298171.6:c.692+48T>A	ENSP00000298171.2:n.692+48T>A
ENST00000342443.10:c.692+48T>A	ENSP00000340113.6:n.692+48T>A
ENST00000541158.6:c.692+48T>A	ENSP00000441235.2:n.692+48T>A
ENST00000554263.5:c.*44T>A	ENSP00000451202.1:n.*44T>A
ENST00000554435.1:c.693-49T>A	ENSP00000450549.1:n.693-49T>A
ENST00000556031.1:n.104+48T>A
NM_000369.2:c.692+48T>A , LRG_523t1:c.692+48T>A	NP_000360.2:n.692+48T>A
NM_001018036.2:c.692+48T>A	NP_001018046.1:n.692+48T>A
NM_001142626.2:c.693-49T>A	NP_001136098.1:n.693-49T>A
XM_005268037.3:c.692+48T>A	XP_005268094.1:n.692+48T>A
XM_005268039.1:c.692+48T>A	XP_005268096.1:n.692+48T>A
XM_006720245.1:c.693-49T>A	XP_006720308.1:n.693-49T>A
XM_011537119.1:c.413+48T>A	XP_011535421.1:n.413+48T>A
XR_245790.3:n.2087-8974A>T
XR_429385.2:n.854-1320A>T
XR_429386.2:n.855-1362A>T
XR_944075.1:n.866-8974A>T
XR_944076.1:n.862-8974A>T
XR_944077.1:n.866-8974A>T
XR_944078.1:n.866-8974A>T
XR_944079.1:n.856-1320A>T
XM_005268037.4:c.692+48T>A	XP_005268094.1:n.692+48T>A
XM_011537119.2:c.413+48T>A	XP_011535421.1:n.413+48T>A
XR_001751021.1:n.2754-8974A>T
XR_001751022.1:n.2754-8974A>T
XR_001751023.1:n.2754-8974A>T
XR_944075.3:n.930-8974A>T
NM_000369.4:c.692+48T>A	NP_000360.2:n.692+48T>A
NM_001018036.3:c.692+48T>A	NP_001018046.1:n.692+48T>A
NM_001142626.3:c.693-49T>A	NP_001136098.1:n.693-49T>A
NM_000369.5:c.692+48T>A MANE Select	NP_000360.2:n.692+48T>A