Canonical Allele Identifier: CA2150068745
Gene: TSHR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.81088217A= , CM000676.2:g.81088217A= GRCh38
NC_000014.8:g.81554561A= , CM000676.1:g.81554561A= GRCh37
NC_000014.7:g.80624314A= NCBI36
NG_009206.1:g.137693A= , LRG_523:g.137693A=

Transcript Alleles

HGVS Amino-acid change
ENST00000298171.7:c.392+189A= MANE Select ENSP00000298171.2:n.392+189A=
ENST00000636454.1:n.310+189A=
ENST00000298171.6:c.392+189A= ENSP00000298171.2:n.392+189A=
ENST00000342443.10:c.392+189A= ENSP00000340113.6:n.392+189A=
ENST00000541158.6:c.392+189A= ENSP00000441235.2:n.392+189A=
ENST00000554263.5:c.392+189A= ENSP00000451202.1:n.392+189A=
ENST00000554435.1:c.392+189A= ENSP00000450549.1:n.392+189A=
ENST00000555326.5:c.*102+189A= ENSP00000451092.1:n.*102+189A=
NM_000369.2:c.392+189A= , LRG_523t1:c.392+189A= NP_000360.2:n.392+189A=
NM_001018036.2:c.392+189A= NP_001018046.1:n.392+189A=
NM_001142626.2:c.392+189A= NP_001136098.1:n.392+189A=
XM_005268037.3:c.392+189A= XP_005268094.1:n.392+189A=
XM_005268039.1:c.392+189A= XP_005268096.1:n.392+189A=
XM_006720245.1:c.392+189A= XP_006720308.1:n.392+189A=
XM_011537119.1:c.113+189A= XP_011535421.1:n.113+189A=
XR_245790.3:n.2481-565T=
XR_944075.1:n.1354-565T=
XR_944076.1:n.1256-565T=
XR_944077.1:n.1260-565T=
XR_944078.1:n.1260-565T=
XM_005268037.4:c.392+189A= XP_005268094.1:n.392+189A=
XM_011537119.2:c.113+189A= XP_011535421.1:n.113+189A=
XR_001751018.2:n.794-565T=
XR_001751019.2:n.700-565T=
XR_001751020.2:n.700-565T=
XR_001751021.1:n.3242-565T=
XR_001751022.1:n.3148-565T=
XR_001751023.1:n.3281-565T=
XR_001751024.2:n.794-565T=
XR_944075.3:n.1418-565T=
NM_000369.4:c.392+189A= NP_000360.2:n.392+189A=
NM_001018036.3:c.392+189A= NP_001018046.1:n.392+189A=
NM_001142626.3:c.392+189A= NP_001136098.1:n.392+189A=
NM_000369.5:c.392+189A= MANE Select NP_000360.2:n.392+189A=