Canonical Allele Identifier: CA390729888
Gene: TSHR HGNC NCBI

Linked Data

dbSNP Id: rs1456730983

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.81144274A>G , CM000676.2:g.81144274A>G GRCh38
NC_000014.8:g.81610618A>G , CM000676.1:g.81610618A>G GRCh37
NC_000014.7:g.80680371A>G NCBI36
NG_009206.1:g.193750A>G , LRG_523:g.193750A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298171.7:c.2216A>G MANE Select ENSP00000298171.2:p.Tyr739Cys
ENST00000637447.1:c.1119A>G
ENST00000298171.6:c.2216A>G ENSP00000298171.2:p.Tyr739Cys
ENST00000541158.6:c.2216A>G ENSP00000441235.2:p.Tyr739Cys
NM_000369.2:c.2216A>G , LRG_523t1:c.2216A>G NP_000360.2:p.Tyr739Cys
XM_005268037.3:c.2216A>G XP_005268094.1:p.Tyr739Cys
XM_011537119.1:c.1937A>G XP_011535421.1:p.Tyr646Cys
XR_245790.3:n.2086+20919T>C
XR_429385.2:n.853+20919T>C
XR_429386.2:n.854+20919T>C
XR_944075.1:n.865+20919T>C
XR_944076.1:n.861+20919T>C
XR_944077.1:n.865+20919T>C
XR_944078.1:n.865+20919T>C
XR_944079.1:n.855+20919T>C
XM_005268037.4:c.2216A>G XP_005268094.1:p.Tyr739Cys
XM_011537119.2:c.1937A>G XP_011535421.1:p.Tyr646Cys
XR_001751021.1:n.2753+20919T>C
XR_001751022.1:n.2753+20919T>C
XR_001751023.1:n.2753+20919T>C
XR_944075.3:n.929+20919T>C
NM_000369.4:c.2216A>G NP_000360.2:p.Tyr739Cys
NM_000369.5:c.2216A>G MANE Select NP_000360.2:p.Tyr739Cys