Canonical Allele Identifier: CA2625936054

Gene: TSHR

Linked Data

• gnomAD v4: 14-81144599-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81144599A>C , CM000676.2:g.81144599A>C	GRCh38
NC_000014.8:g.81610943A>C , CM000676.1:g.81610943A>C	GRCh37
NC_000014.7:g.80680696A>C	NCBI36
NG_009206.1:g.194075A>C , LRG_523:g.194075A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298171.7:c.*246A>C MANE Select	ENSP00000298171.2:n.*246A>C
ENST00000637447.1:c.1444A>C
ENST00000298171.6:c.*246A>C	ENSP00000298171.2:n.*246A>C
ENST00000541158.6:c.*246A>C	ENSP00000441235.2:n.*246A>C
NM_000369.2:c.*246A>C , LRG_523t1:c.*246A>C	NP_000360.2:n.*246A>C
XM_005268037.3:c.*246A>C	XP_005268094.1:n.*246A>C
XM_011537119.1:c.*246A>C	XP_011535421.1:n.*246A>C
XR_245790.3:n.2086+20594T>G
XR_429385.2:n.853+20594T>G
XR_429386.2:n.854+20594T>G
XR_944075.1:n.865+20594T>G
XR_944076.1:n.861+20594T>G
XR_944077.1:n.865+20594T>G
XR_944078.1:n.865+20594T>G
XR_944079.1:n.855+20594T>G
XM_005268037.4:c.*246A>C	XP_005268094.1:n.*246A>C
XM_011537119.2:c.*246A>C	XP_011535421.1:n.*246A>C
XR_001751021.1:n.2753+20594T>G
XR_001751022.1:n.2753+20594T>G
XR_001751023.1:n.2753+20594T>G
XR_944075.3:n.929+20594T>G
NM_000369.4:c.*246A>C	NP_000360.2:n.*246A>C
NM_000369.5:c.*246A>C MANE Select	NP_000360.2:n.*246A>C