Canonical Allele Identifier: CA7294372

Gene: TSHR

Linked Data

• dbSNP Id: rs192078271
• ExAC: 14:81609414 A / C
• gnomAD v2: 14-81609414-A-C
• gnomAD v3: 14-81143070-A-C
• gnomAD v4: 14-81143070-A-C
• MyVariant Identifiers: chr14:g.81609414A>C (hg19) ; chr14:g.81143070A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81143070A>C , CM000676.2:g.81143070A>C	GRCh38
NC_000014.8:g.81609414A>C , CM000676.1:g.81609414A>C	GRCh37
NC_000014.7:g.80679167A>C	NCBI36
NG_009206.1:g.192546A>C , LRG_523:g.192546A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.1012A>C MANE Select	ENSP00000298171.2:p.Lys338Gln
ENST00000636454.1:n.930A>C
ENST00000298171.6:c.1012A>C	ENSP00000298171.2:p.Lys338Gln
ENST00000541158.6:c.1012A>C	ENSP00000441235.2:p.Lys338Gln
NM_000369.2:c.1012A>C , LRG_523t1:c.1012A>C	NP_000360.2:p.Lys338Gln
XM_005268037.3:c.1012A>C	XP_005268094.1:p.Lys338Gln
XM_011537119.1:c.733A>C	XP_011535421.1:p.Lys245Gln
XR_245790.3:n.2086+22123T>G
XR_429385.2:n.853+22123T>G
XR_429386.2:n.854+22123T>G
XR_944075.1:n.865+22123T>G
XR_944076.1:n.861+22123T>G
XR_944077.1:n.865+22123T>G
XR_944078.1:n.865+22123T>G
XR_944079.1:n.855+22123T>G
XM_005268037.4:c.1012A>C	XP_005268094.1:p.Lys338Gln
XM_011537119.2:c.733A>C	XP_011535421.1:p.Lys245Gln
XR_001751021.1:n.2753+22123T>G
XR_001751022.1:n.2753+22123T>G
XR_001751023.1:n.2753+22123T>G
XR_944075.3:n.929+22123T>G
NM_000369.4:c.1012A>C	NP_000360.2:p.Lys338Gln
NM_000369.5:c.1012A>C MANE Select	NP_000360.2:p.Lys338Gln