Canonical Allele Identifier: CA2150075355
Gene: TSHR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.81143516C= , CM000676.2:g.81143516C= GRCh38
NC_000014.8:g.81609860C= , CM000676.1:g.81609860C= GRCh37
NC_000014.7:g.80679613C= NCBI36
NG_009206.1:g.192992C= , LRG_523:g.192992C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000298171.7:c.1458C= MANE Select ENSP00000298171.2:p.Ile486=
ENST00000636454.1:n.1376C=
ENST00000637447.1:c.361C=
ENST00000298171.6:c.1458C= ENSP00000298171.2:p.Ile486=
ENST00000541158.6:c.1458C= ENSP00000441235.2:p.Ile486=
NM_000369.2:c.1458C= , LRG_523t1:c.1458C= NP_000360.2:p.Ile486=
XM_005268037.3:c.1458C= XP_005268094.1:p.Ile486=
XM_011537119.1:c.1179C= XP_011535421.1:p.Ile393=
XR_245790.3:n.2086+21677G=
XR_429385.2:n.853+21677G=
XR_429386.2:n.854+21677G=
XR_944075.1:n.865+21677G=
XR_944076.1:n.861+21677G=
XR_944077.1:n.865+21677G=
XR_944078.1:n.865+21677G=
XR_944079.1:n.855+21677G=
XM_005268037.4:c.1458C= XP_005268094.1:p.Ile486=
XM_011537119.2:c.1179C= XP_011535421.1:p.Ile393=
XR_001751021.1:n.2753+21677G=
XR_001751022.1:n.2753+21677G=
XR_001751023.1:n.2753+21677G=
XR_944075.3:n.929+21677G=
NM_000369.4:c.1458C= NP_000360.2:p.Ile486=
NM_000369.5:c.1458C= MANE Select NP_000360.2:p.Ile486=