Canonical Allele Identifier: CA7294551

Gene: TSHR

Linked Data

• dbSNP Id: rs764166417
• ExAC: 14:81610349 G / A
• gnomAD v2: 14-81610349-G-A
• MyVariant Identifiers: chr14:g.81610349G>A (hg19) ; chr14:g.81144005G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81144005G>A , CM000676.2:g.81144005G>A	GRCh38
NC_000014.8:g.81610349G>A , CM000676.1:g.81610349G>A	GRCh37
NC_000014.7:g.80680102G>A	NCBI36
NG_009206.1:g.193481G>A , LRG_523:g.193481G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.1947G>A MANE Select	ENSP00000298171.2:p.Leu649=
ENST00000637447.1:c.850G>A
ENST00000298171.6:c.1947G>A	ENSP00000298171.2:p.Leu649=
ENST00000541158.6:c.1947G>A	ENSP00000441235.2:p.Leu649=
NM_000369.2:c.1947G>A , LRG_523t1:c.1947G>A	NP_000360.2:p.Leu649=
XM_005268037.3:c.1947G>A	XP_005268094.1:p.Leu649=
XM_011537119.1:c.1668G>A	XP_011535421.1:p.Leu556=
XR_245790.3:n.2086+21188C>T
XR_429385.2:n.853+21188C>T
XR_429386.2:n.854+21188C>T
XR_944075.1:n.865+21188C>T
XR_944076.1:n.861+21188C>T
XR_944077.1:n.865+21188C>T
XR_944078.1:n.865+21188C>T
XR_944079.1:n.855+21188C>T
XM_005268037.4:c.1947G>A	XP_005268094.1:p.Leu649=
XM_011537119.2:c.1668G>A	XP_011535421.1:p.Leu556=
XR_001751021.1:n.2753+21188C>T
XR_001751022.1:n.2753+21188C>T
XR_001751023.1:n.2753+21188C>T
XR_944075.3:n.929+21188C>T
NM_000369.4:c.1947G>A	NP_000360.2:p.Leu649=
NM_000369.5:c.1947G>A MANE Select	NP_000360.2:p.Leu649=