Canonical Allele Identifier: CA390728287

Gene: TSHR

Linked Data

• gnomAD v4: 14-81143686-T-C
• MyVariant Identifiers: chr14:g.81610030T>C (hg19) ; chr14:g.81143686T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81143686T>C , CM000676.2:g.81143686T>C	GRCh38
NC_000014.8:g.81610030T>C , CM000676.1:g.81610030T>C	GRCh37
NC_000014.7:g.80679783T>C	NCBI36
NG_009206.1:g.193162T>C , LRG_523:g.193162T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298171.7:c.1628T>C MANE Select	ENSP00000298171.2:p.Val543Ala
ENST00000636454.1:n.1546T>C
ENST00000637447.1:c.531T>C
ENST00000298171.6:c.1628T>C	ENSP00000298171.2:p.Val543Ala
ENST00000541158.6:c.1628T>C	ENSP00000441235.2:p.Val543Ala
NM_000369.2:c.1628T>C , LRG_523t1:c.1628T>C	NP_000360.2:p.Val543Ala
XM_005268037.3:c.1628T>C	XP_005268094.1:p.Val543Ala
XM_011537119.1:c.1349T>C	XP_011535421.1:p.Val450Ala
XR_245790.3:n.2086+21507A>G
XR_429385.2:n.853+21507A>G
XR_429386.2:n.854+21507A>G
XR_944075.1:n.865+21507A>G
XR_944076.1:n.861+21507A>G
XR_944077.1:n.865+21507A>G
XR_944078.1:n.865+21507A>G
XR_944079.1:n.855+21507A>G
XM_005268037.4:c.1628T>C	XP_005268094.1:p.Val543Ala
XM_011537119.2:c.1349T>C	XP_011535421.1:p.Val450Ala
XR_001751021.1:n.2753+21507A>G
XR_001751022.1:n.2753+21507A>G
XR_001751023.1:n.2753+21507A>G
XR_944075.3:n.929+21507A>G
NM_000369.4:c.1628T>C	NP_000360.2:p.Val543Ala
NM_000369.5:c.1628T>C MANE Select	NP_000360.2:p.Val543Ala