Canonical Allele Identifier: CA390734696
Gene: TSHR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.81092537T>G , CM000676.2:g.81092537T>G GRCh38
NC_000014.8:g.81558881T>G , CM000676.1:g.81558881T>G GRCh37
NC_000014.7:g.80628634T>G NCBI36
NG_009206.1:g.142013T>G , LRG_523:g.142013T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298171.7:c.474T>G MANE Select ENSP00000298171.2:p.Ile158Met
ENST00000636454.1:n.392T>G
ENST00000298171.6:c.474T>G ENSP00000298171.2:p.Ile158Met
ENST00000342443.10:c.474T>G ENSP00000340113.6:p.Ile158Met
ENST00000541158.6:c.474T>G ENSP00000441235.2:p.Ile158Met
ENST00000554263.5:c.474T>G ENSP00000451202.1:p.Ile158Met
ENST00000554435.1:c.474T>G ENSP00000450549.1:p.Ile158Met
NM_000369.2:c.474T>G , LRG_523t1:c.474T>G NP_000360.2:p.Ile158Met
NM_001018036.2:c.474T>G NP_001018046.1:p.Ile158Met
NM_001142626.2:c.474T>G NP_001136098.1:p.Ile158Met
XM_005268037.3:c.474T>G XP_005268094.1:p.Ile158Met
XM_005268039.1:c.474T>G XP_005268096.1:p.Ile158Met
XM_006720245.1:c.474T>G XP_006720308.1:p.Ile158Met
XM_011537119.1:c.195T>G XP_011535421.1:p.Ile65Met
XR_245790.3:n.2480+1045A>C
XR_944075.1:n.1260-130A>C
XR_944076.1:n.1255+1045A>C
XR_944077.1:n.1259+1045A>C
XR_944078.1:n.1259+1045A>C
XM_005268037.4:c.474T>G XP_005268094.1:p.Ile158Met
XM_011537119.2:c.195T>G XP_011535421.1:p.Ile65Met
XR_001751018.2:n.700-130A>C
XR_001751019.2:n.699+1045A>C
XR_001751020.2:n.699+1045A>C
XR_001751021.1:n.3148-130A>C
XR_001751022.1:n.3147+1045A>C
XR_001751023.1:n.3280+1045A>C
XR_001751024.2:n.700-130A>C
XR_944075.3:n.1324-130A>C
NM_000369.4:c.474T>G NP_000360.2:p.Ile158Met
NM_001018036.3:c.474T>G NP_001018046.1:p.Ile158Met
NM_001142626.3:c.474T>G NP_001136098.1:p.Ile158Met
NM_000369.5:c.474T>G MANE Select NP_000360.2:p.Ile158Met