Canonical Allele Identifier: CA390728363

Gene: TSHR

Linked Data

• dbSNP Id: rs2140112131
• gnomAD v4: 14-81143724-C-G
• MyVariant Identifiers: chr14:g.81610068C>G (hg19) ; chr14:g.81143724C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81143724C>G , CM000676.2:g.81143724C>G	GRCh38
NC_000014.8:g.81610068C>G , CM000676.1:g.81610068C>G	GRCh37
NC_000014.7:g.80679821C>G	NCBI36
NG_009206.1:g.193200C>G , LRG_523:g.193200C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.1666C>G MANE Select	ENSP00000298171.2:p.Pro556Ala
ENST00000636454.1:n.1584C>G
ENST00000637447.1:c.569C>G
ENST00000298171.6:c.1666C>G	ENSP00000298171.2:p.Pro556Ala
ENST00000541158.6:c.1666C>G	ENSP00000441235.2:p.Pro556Ala
NM_000369.2:c.1666C>G , LRG_523t1:c.1666C>G	NP_000360.2:p.Pro556Ala
XM_005268037.3:c.1666C>G	XP_005268094.1:p.Pro556Ala
XM_011537119.1:c.1387C>G	XP_011535421.1:p.Pro463Ala
XR_245790.3:n.2086+21469G>C
XR_429385.2:n.853+21469G>C
XR_429386.2:n.854+21469G>C
XR_944075.1:n.865+21469G>C
XR_944076.1:n.861+21469G>C
XR_944077.1:n.865+21469G>C
XR_944078.1:n.865+21469G>C
XR_944079.1:n.855+21469G>C
XM_005268037.4:c.1666C>G	XP_005268094.1:p.Pro556Ala
XM_011537119.2:c.1387C>G	XP_011535421.1:p.Pro463Ala
XR_001751021.1:n.2753+21469G>C
XR_001751022.1:n.2753+21469G>C
XR_001751023.1:n.2753+21469G>C
XR_944075.3:n.929+21469G>C
NM_000369.4:c.1666C>G	NP_000360.2:p.Pro556Ala
NM_000369.5:c.1666C>G MANE Select	NP_000360.2:p.Pro556Ala