Canonical Allele Identifier: CA2596692669

Gene: TSHR

Linked Data

• dbSNP Id: rs2139750440
• gnomAD v3: 14-80996548-T-A
• gnomAD v4: 14-80996548-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80996548T>A , CM000676.2:g.80996548T>A	GRCh38
NC_000014.8:g.81462892T>A , CM000676.1:g.81462892T>A	GRCh37
NC_000014.7:g.80532645T>A	NCBI36
NG_009206.1:g.46024T>A , LRG_523:g.46024T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.170+40698T>A MANE Select	ENSP00000298171.2:n.170+40698T>A
ENST00000298171.6:c.170+40698T>A	ENSP00000298171.2:n.170+40698T>A
ENST00000342443.10:c.170+40698T>A	ENSP00000340113.6:n.170+40698T>A
ENST00000541158.6:c.170+40698T>A	ENSP00000441235.2:n.170+40698T>A
ENST00000553763.1:n.270+40698T>A
ENST00000554263.5:c.170+40698T>A	ENSP00000451202.1:n.170+40698T>A
ENST00000554435.1:c.170+40698T>A	ENSP00000450549.1:n.170+40698T>A
ENST00000555326.5:c.170+40698T>A	ENSP00000451092.1:n.170+40698T>A
NM_000369.2:c.170+40698T>A , LRG_523t1:c.170+40698T>A	NP_000360.2:n.170+40698T>A
NM_001018036.2:c.170+40698T>A	NP_001018046.1:n.170+40698T>A
NM_001142626.2:c.170+40698T>A	NP_001136098.1:n.170+40698T>A
XM_005268037.3:c.170+40698T>A	XP_005268094.1:n.170+40698T>A
XM_005268039.1:c.170+40698T>A	XP_005268096.1:n.170+40698T>A
XM_006720245.1:c.170+40698T>A	XP_006720308.1:n.170+40698T>A
XM_011537119.1:c.-159+40698T>A	XP_011535421.1:n.-159+40698T>A
XM_005268037.4:c.170+40698T>A	XP_005268094.1:n.170+40698T>A
XM_011537119.2:c.-159+40698T>A	XP_011535421.1:n.-159+40698T>A
NM_000369.4:c.170+40698T>A	NP_000360.2:n.170+40698T>A
NM_001018036.3:c.170+40698T>A	NP_001018046.1:n.170+40698T>A
NM_001142626.3:c.170+40698T>A	NP_001136098.1:n.170+40698T>A
NM_000369.5:c.170+40698T>A MANE Select	NP_000360.2:n.170+40698T>A