Canonical Allele Identifier: CA7294382
Gene: TSHR HGNC NCBI

Linked Data

dbSNP Id: rs374530434

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.81143106G>A , CM000676.2:g.81143106G>A GRCh38
NC_000014.8:g.81609450G>A , CM000676.1:g.81609450G>A GRCh37
NC_000014.7:g.80679203G>A NCBI36
NG_009206.1:g.192582G>A , LRG_523:g.192582G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298171.7:c.1048G>A MANE Select ENSP00000298171.2:p.Ala350Thr
ENST00000636454.1:n.966G>A
ENST00000298171.6:c.1048G>A ENSP00000298171.2:p.Ala350Thr
ENST00000541158.6:c.1048G>A ENSP00000441235.2:p.Ala350Thr
NM_000369.2:c.1048G>A , LRG_523t1:c.1048G>A NP_000360.2:p.Ala350Thr
XM_005268037.3:c.1048G>A XP_005268094.1:p.Ala350Thr
XM_011537119.1:c.769G>A XP_011535421.1:p.Ala257Thr
XR_245790.3:n.2086+22087C>T
XR_429385.2:n.853+22087C>T
XR_429386.2:n.854+22087C>T
XR_944075.1:n.865+22087C>T
XR_944076.1:n.861+22087C>T
XR_944077.1:n.865+22087C>T
XR_944078.1:n.865+22087C>T
XR_944079.1:n.855+22087C>T
XM_005268037.4:c.1048G>A XP_005268094.1:p.Ala350Thr
XM_011537119.2:c.769G>A XP_011535421.1:p.Ala257Thr
XR_001751021.1:n.2753+22087C>T
XR_001751022.1:n.2753+22087C>T
XR_001751023.1:n.2753+22087C>T
XR_944075.3:n.929+22087C>T
NM_000369.4:c.1048G>A NP_000360.2:p.Ala350Thr
NM_000369.5:c.1048G>A MANE Select NP_000360.2:p.Ala350Thr