Canonical Allele Identifier: CA2150074792
Gene: TSHR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.81143166C= , CM000676.2:g.81143166C= GRCh38
NC_000014.8:g.81609510C= , CM000676.1:g.81609510C= GRCh37
NC_000014.7:g.80679263C= NCBI36
NG_009206.1:g.192642C= , LRG_523:g.192642C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000298171.7:c.1108C= MANE Select ENSP00000298171.2:p.Leu370=
ENST00000636454.1:n.1026C=
ENST00000637447.1:c.11C=
ENST00000298171.6:c.1108C= ENSP00000298171.2:p.Leu370=
ENST00000541158.6:c.1108C= ENSP00000441235.2:p.Leu370=
NM_000369.2:c.1108C= , LRG_523t1:c.1108C= NP_000360.2:p.Leu370=
XM_005268037.3:c.1108C= XP_005268094.1:p.Leu370=
XM_011537119.1:c.829C= XP_011535421.1:p.Leu277=
XR_245790.3:n.2086+22027G=
XR_429385.2:n.853+22027G=
XR_429386.2:n.854+22027G=
XR_944075.1:n.865+22027G=
XR_944076.1:n.861+22027G=
XR_944077.1:n.865+22027G=
XR_944078.1:n.865+22027G=
XR_944079.1:n.855+22027G=
XM_005268037.4:c.1108C= XP_005268094.1:p.Leu370=
XM_011537119.2:c.829C= XP_011535421.1:p.Leu277=
XR_001751021.1:n.2753+22027G=
XR_001751022.1:n.2753+22027G=
XR_001751023.1:n.2753+22027G=
XR_944075.3:n.929+22027G=
NM_000369.4:c.1108C= NP_000360.2:p.Leu370=
NM_000369.5:c.1108C= MANE Select NP_000360.2:p.Leu370=