Canonical Allele Identifier: CA390730996

Gene: TSHR

Linked Data

• dbSNP Id: rs2139910033
• gnomAD v4: 14-81068290-A-T
• MyVariant Identifiers: chr14:g.81534634A>T (hg19) ; chr14:g.81068290A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81068290A>T , CM000676.2:g.81068290A>T	GRCh38
NC_000014.8:g.81534634A>T , CM000676.1:g.81534634A>T	GRCh37
NC_000014.7:g.80604387A>T	NCBI36
NG_009206.1:g.117766A>T , LRG_523:g.117766A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298171.7:c.279A>T MANE Select	ENSP00000298171.2:p.Glu93Asp
ENST00000298171.6:c.279A>T	ENSP00000298171.2:p.Glu93Asp
ENST00000342443.10:c.279A>T	ENSP00000340113.6:p.Glu93Asp
ENST00000541158.6:c.279A>T	ENSP00000441235.2:p.Glu93Asp
ENST00000553763.1:n.379A>T
ENST00000554263.5:c.279A>T	ENSP00000451202.1:p.Glu93Asp
ENST00000554435.1:c.279A>T	ENSP00000450549.1:p.Glu93Asp
ENST00000555326.5:c.279A>T	ENSP00000451092.1:p.Glu93Asp
NM_000369.2:c.279A>T , LRG_523t1:c.279A>T	NP_000360.2:p.Glu93Asp
NM_001018036.2:c.279A>T	NP_001018046.1:p.Glu93Asp
NM_001142626.2:c.279A>T	NP_001136098.1:p.Glu93Asp
XM_005268037.3:c.279A>T	XP_005268094.1:p.Glu93Asp
XM_005268039.1:c.279A>T	XP_005268096.1:p.Glu93Asp
XM_006720245.1:c.279A>T	XP_006720308.1:p.Glu93Asp
XM_011537119.1:c.-50A>T	XP_011535421.1:n.-50A>T
XR_245790.3:n.3676-14474T>A
XR_944075.1:n.2549-14474T>A
XR_944076.1:n.1442-14474T>A
XR_944077.1:n.2455-14474T>A
XR_944078.1:n.2455-14474T>A
XM_005268037.4:c.279A>T	XP_005268094.1:p.Glu93Asp
XM_011537119.2:c.-50A>T	XP_011535421.1:n.-50A>T
XR_001751018.2:n.1989-14474T>A
XR_001751019.2:n.1895-14474T>A
XR_001751020.2:n.886-14474T>A
XR_001751021.1:n.4437-14474T>A
XR_001751022.1:n.3334-14474T>A
XR_001751023.1:n.4476-14474T>A
XR_001751024.2:n.1989-14474T>A
XR_944075.3:n.2613-14474T>A
NM_000369.4:c.279A>T	NP_000360.2:p.Glu93Asp
NM_001018036.3:c.279A>T	NP_001018046.1:p.Glu93Asp
NM_001142626.3:c.279A>T	NP_001136098.1:p.Glu93Asp
NM_000369.5:c.279A>T MANE Select	NP_000360.2:p.Glu93Asp