Canonical Allele Identifier: CA390726507

Gene: TSHR

Linked Data

• MyVariant Identifiers: chr14:g.81609432C>A (hg19) ; chr14:g.81143088C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81143088C>A , CM000676.2:g.81143088C>A	GRCh38
NC_000014.8:g.81609432C>A , CM000676.1:g.81609432C>A	GRCh37
NC_000014.7:g.80679185C>A	NCBI36
NG_009206.1:g.192564C>A , LRG_523:g.192564C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.1030C>A MANE Select	ENSP00000298171.2:p.Gln344Lys
ENST00000636454.1:n.948C>A
ENST00000298171.6:c.1030C>A	ENSP00000298171.2:p.Gln344Lys
ENST00000541158.6:c.1030C>A	ENSP00000441235.2:p.Gln344Lys
NM_000369.2:c.1030C>A , LRG_523t1:c.1030C>A	NP_000360.2:p.Gln344Lys
XM_005268037.3:c.1030C>A	XP_005268094.1:p.Gln344Lys
XM_011537119.1:c.751C>A	XP_011535421.1:p.Gln251Lys
XR_245790.3:n.2086+22105G>T
XR_429385.2:n.853+22105G>T
XR_429386.2:n.854+22105G>T
XR_944075.1:n.865+22105G>T
XR_944076.1:n.861+22105G>T
XR_944077.1:n.865+22105G>T
XR_944078.1:n.865+22105G>T
XR_944079.1:n.855+22105G>T
XM_005268037.4:c.1030C>A	XP_005268094.1:p.Gln344Lys
XM_011537119.2:c.751C>A	XP_011535421.1:p.Gln251Lys
XR_001751021.1:n.2753+22105G>T
XR_001751022.1:n.2753+22105G>T
XR_001751023.1:n.2753+22105G>T
XR_944075.3:n.929+22105G>T
NM_000369.4:c.1030C>A	NP_000360.2:p.Gln344Lys
NM_000369.5:c.1030C>A MANE Select	NP_000360.2:p.Gln344Lys