Canonical Allele Identifier: CA7294447

Gene: TSHR

Linked Data

• dbSNP Id: rs762578626
• ExAC: 14:81609778 C / T
• gnomAD v2: 14-81609778-C-T
• gnomAD v3: 14-81143434-C-T
• gnomAD v4: 14-81143434-C-T
• MyVariant Identifiers: chr14:g.81609778C>T (hg19) ; chr14:g.81143434C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81143434C>T , CM000676.2:g.81143434C>T	GRCh38
NC_000014.8:g.81609778C>T , CM000676.1:g.81609778C>T	GRCh37
NC_000014.7:g.80679531C>T	NCBI36
NG_009206.1:g.192910C>T , LRG_523:g.192910C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.1376C>T MANE Select	ENSP00000298171.2:p.Ala459Val
ENST00000636454.1:n.1294C>T
ENST00000637447.1:c.279C>T
ENST00000298171.6:c.1376C>T	ENSP00000298171.2:p.Ala459Val
ENST00000541158.6:c.1376C>T	ENSP00000441235.2:p.Ala459Val
NM_000369.2:c.1376C>T , LRG_523t1:c.1376C>T	NP_000360.2:p.Ala459Val
XM_005268037.3:c.1376C>T	XP_005268094.1:p.Ala459Val
XM_011537119.1:c.1097C>T	XP_011535421.1:p.Ala366Val
XR_245790.3:n.2086+21759G>A
XR_429385.2:n.853+21759G>A
XR_429386.2:n.854+21759G>A
XR_944075.1:n.865+21759G>A
XR_944076.1:n.861+21759G>A
XR_944077.1:n.865+21759G>A
XR_944078.1:n.865+21759G>A
XR_944079.1:n.855+21759G>A
XM_005268037.4:c.1376C>T	XP_005268094.1:p.Ala459Val
XM_011537119.2:c.1097C>T	XP_011535421.1:p.Ala366Val
XR_001751021.1:n.2753+21759G>A
XR_001751022.1:n.2753+21759G>A
XR_001751023.1:n.2753+21759G>A
XR_944075.3:n.929+21759G>A
NM_000369.4:c.1376C>T	NP_000360.2:p.Ala459Val
NM_000369.5:c.1376C>T MANE Select	NP_000360.2:p.Ala459Val