Canonical Allele Identifier: CA709008944

Gene: TSHR

Linked Data

• dbSNP Id: rs1277876212
• gnomAD v3: 14-81144575-C-G
• gnomAD v4: 14-81144575-C-G
• MyVariant Identifiers: chr14:g.81610919C>G (hg19) ; chr14:g.81144575C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81144575C>G , CM000676.2:g.81144575C>G	GRCh38
NC_000014.8:g.81610919C>G , CM000676.1:g.81610919C>G	GRCh37
NC_000014.7:g.80680672C>G	NCBI36
NG_009206.1:g.194051C>G , LRG_523:g.194051C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.*222C>G MANE Select	ENSP00000298171.2:n.*222C>G
ENST00000637447.1:c.1420C>G
ENST00000298171.6:c.*222C>G	ENSP00000298171.2:n.*222C>G
ENST00000541158.6:c.*222C>G	ENSP00000441235.2:n.*222C>G
NM_000369.2:c.*222C>G , LRG_523t1:c.*222C>G	NP_000360.2:n.*222C>G
XM_005268037.3:c.*222C>G	XP_005268094.1:n.*222C>G
XM_011537119.1:c.*222C>G	XP_011535421.1:n.*222C>G
XR_245790.3:n.2086+20618G>C
XR_429385.2:n.853+20618G>C
XR_429386.2:n.854+20618G>C
XR_944075.1:n.865+20618G>C
XR_944076.1:n.861+20618G>C
XR_944077.1:n.865+20618G>C
XR_944078.1:n.865+20618G>C
XR_944079.1:n.855+20618G>C
XM_005268037.4:c.*222C>G	XP_005268094.1:n.*222C>G
XM_011537119.2:c.*222C>G	XP_011535421.1:n.*222C>G
XR_001751021.1:n.2753+20618G>C
XR_001751022.1:n.2753+20618G>C
XR_001751023.1:n.2753+20618G>C
XR_944075.3:n.929+20618G>C
NM_000369.4:c.*222C>G	NP_000360.2:n.*222C>G
NM_000369.5:c.*222C>G MANE Select	NP_000360.2:n.*222C>G