Canonical Allele Identifier: CA487512856
Gene: TSHR HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.81610136T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.81143792T>A , CM000676.2:g.81143792T>A GRCh38
NC_000014.8:g.81610136T>A , CM000676.1:g.81610136T>A GRCh37
NC_000014.7:g.80679889T>A NCBI36
NG_009206.1:g.193268T>A , LRG_523:g.193268T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000298171.7:c.1734T>A MANE Select ENSP00000298171.2:p.Leu578=
ENST00000637447.1:c.637T>A
ENST00000298171.6:c.1734T>A ENSP00000298171.2:p.Leu578=
ENST00000541158.6:c.1734T>A ENSP00000441235.2:p.Leu578=
NM_000369.2:c.1734T>A , LRG_523t1:c.1734T>A NP_000360.2:p.Leu578=
XM_005268037.3:c.1734T>A XP_005268094.1:p.Leu578=
XM_011537119.1:c.1455T>A XP_011535421.1:p.Leu485=
XR_245790.3:n.2086+21401A>T
XR_429385.2:n.853+21401A>T
XR_429386.2:n.854+21401A>T
XR_944075.1:n.865+21401A>T
XR_944076.1:n.861+21401A>T
XR_944077.1:n.865+21401A>T
XR_944078.1:n.865+21401A>T
XR_944079.1:n.855+21401A>T
XM_005268037.4:c.1734T>A XP_005268094.1:p.Leu578=
XM_011537119.2:c.1455T>A XP_011535421.1:p.Leu485=
XR_001751021.1:n.2753+21401A>T
XR_001751022.1:n.2753+21401A>T
XR_001751023.1:n.2753+21401A>T
XR_944075.3:n.929+21401A>T
NM_000369.4:c.1734T>A NP_000360.2:p.Leu578=
NM_000369.5:c.1734T>A MANE Select NP_000360.2:p.Leu578=