Canonical Allele Identifier: CA2150074472

Gene: TSHR

Linked Data

• ClinVar Variation Id: 2836097
• ClinVar RCV Id: RCV003689898
• dbSNP Id: rs1595176904

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81142929T>A , CM000676.2:g.81142929T>A	GRCh38
NC_000014.8:g.81609273T>A , CM000676.1:g.81609273T>A	GRCh37
NC_000014.7:g.80679026T>A	NCBI36
NG_009206.1:g.192405T>A , LRG_523:g.192405T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.882-11T>A MANE Select	ENSP00000298171.2:n.882-11T>A
ENST00000636454.1:n.800-11T>A
ENST00000298171.6:c.882-11T>A	ENSP00000298171.2:n.882-11T>A
ENST00000541158.6:c.882-11T>A	ENSP00000441235.2:n.882-11T>A
NM_000369.2:c.882-11T>A , LRG_523t1:c.882-11T>A	NP_000360.2:n.882-11T>A
XM_005268037.3:c.882-11T>A	XP_005268094.1:n.882-11T>A
XM_011537119.1:c.603-11T>A	XP_011535421.1:n.603-11T>A
XR_245790.3:n.2086+22264A>T
XR_429385.2:n.853+22264A>T
XR_429386.2:n.854+22264A>T
XR_944075.1:n.865+22264A>T
XR_944076.1:n.861+22264A>T
XR_944077.1:n.865+22264A>T
XR_944078.1:n.865+22264A>T
XR_944079.1:n.855+22264A>T
XM_005268037.4:c.882-11T>A	XP_005268094.1:n.882-11T>A
XM_011537119.2:c.603-11T>A	XP_011535421.1:n.603-11T>A
XR_001751021.1:n.2753+22264A>T
XR_001751022.1:n.2753+22264A>T
XR_001751023.1:n.2753+22264A>T
XR_944075.3:n.929+22264A>T
NM_000369.4:c.882-11T>A	NP_000360.2:n.882-11T>A
NM_000369.5:c.882-11T>A MANE Select	NP_000360.2:n.882-11T>A