Canonical Allele Identifier: CA7294592

Gene: TSHR

Linked Data

• dbSNP Id: rs772114546
• ExAC: 14:81610549 G / T
• gnomAD v2: 14-81610549-G-T
• gnomAD v4: 14-81144205-G-T
• MyVariant Identifiers: chr14:g.81610549G>T (hg19) ; chr14:g.81144205G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81144205G>T , CM000676.2:g.81144205G>T	GRCh38
NC_000014.8:g.81610549G>T , CM000676.1:g.81610549G>T	GRCh37
NC_000014.7:g.80680302G>T	NCBI36
NG_009206.1:g.193681G>T , LRG_523:g.193681G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.2147G>T MANE Select	ENSP00000298171.2:p.Ser716Ile
ENST00000637447.1:c.1050G>T
ENST00000298171.6:c.2147G>T	ENSP00000298171.2:p.Ser716Ile
ENST00000541158.6:c.2147G>T	ENSP00000441235.2:p.Ser716Ile
NM_000369.2:c.2147G>T , LRG_523t1:c.2147G>T	NP_000360.2:p.Ser716Ile
XM_005268037.3:c.2147G>T	XP_005268094.1:p.Ser716Ile
XM_011537119.1:c.1868G>T	XP_011535421.1:p.Ser623Ile
XR_245790.3:n.2086+20988C>A
XR_429385.2:n.853+20988C>A
XR_429386.2:n.854+20988C>A
XR_944075.1:n.865+20988C>A
XR_944076.1:n.861+20988C>A
XR_944077.1:n.865+20988C>A
XR_944078.1:n.865+20988C>A
XR_944079.1:n.855+20988C>A
XM_005268037.4:c.2147G>T	XP_005268094.1:p.Ser716Ile
XM_011537119.2:c.1868G>T	XP_011535421.1:p.Ser623Ile
XR_001751021.1:n.2753+20988C>A
XR_001751022.1:n.2753+20988C>A
XR_001751023.1:n.2753+20988C>A
XR_944075.3:n.929+20988C>A
NM_000369.4:c.2147G>T	NP_000360.2:p.Ser716Ile
NM_000369.5:c.2147G>T MANE Select	NP_000360.2:p.Ser716Ile