Canonical Allele Identifier: CA2625932994

Gene: TSHR

Linked Data

• gnomAD v4: 14-81088174-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81088174G>C , CM000676.2:g.81088174G>C	GRCh38
NC_000014.8:g.81554518G>C , CM000676.1:g.81554518G>C	GRCh37
NC_000014.7:g.80624271G>C	NCBI36
NG_009206.1:g.137650G>C , LRG_523:g.137650G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298171.7:c.392+146G>C MANE Select	ENSP00000298171.2:n.392+146G>C
ENST00000636454.1:n.310+146G>C
ENST00000298171.6:c.392+146G>C	ENSP00000298171.2:n.392+146G>C
ENST00000342443.10:c.392+146G>C	ENSP00000340113.6:n.392+146G>C
ENST00000541158.6:c.392+146G>C	ENSP00000441235.2:n.392+146G>C
ENST00000554263.5:c.392+146G>C	ENSP00000451202.1:n.392+146G>C
ENST00000554435.1:c.392+146G>C	ENSP00000450549.1:n.392+146G>C
ENST00000555326.5:c.*102+146G>C	ENSP00000451092.1:n.*102+146G>C
NM_000369.2:c.392+146G>C , LRG_523t1:c.392+146G>C	NP_000360.2:n.392+146G>C
NM_001018036.2:c.392+146G>C	NP_001018046.1:n.392+146G>C
NM_001142626.2:c.392+146G>C	NP_001136098.1:n.392+146G>C
XM_005268037.3:c.392+146G>C	XP_005268094.1:n.392+146G>C
XM_005268039.1:c.392+146G>C	XP_005268096.1:n.392+146G>C
XM_006720245.1:c.392+146G>C	XP_006720308.1:n.392+146G>C
XM_011537119.1:c.113+146G>C	XP_011535421.1:n.113+146G>C
XR_245790.3:n.2481-522C>G
XR_944075.1:n.1354-522C>G
XR_944076.1:n.1256-522C>G
XR_944077.1:n.1260-522C>G
XR_944078.1:n.1260-522C>G
XM_005268037.4:c.392+146G>C	XP_005268094.1:n.392+146G>C
XM_011537119.2:c.113+146G>C	XP_011535421.1:n.113+146G>C
XR_001751018.2:n.794-522C>G
XR_001751019.2:n.700-522C>G
XR_001751020.2:n.700-522C>G
XR_001751021.1:n.3242-522C>G
XR_001751022.1:n.3148-522C>G
XR_001751023.1:n.3281-522C>G
XR_001751024.2:n.794-522C>G
XR_944075.3:n.1418-522C>G
NM_000369.4:c.392+146G>C	NP_000360.2:n.392+146G>C
NM_001018036.3:c.392+146G>C	NP_001018046.1:n.392+146G>C
NM_001142626.3:c.392+146G>C	NP_001136098.1:n.392+146G>C
NM_000369.5:c.392+146G>C MANE Select	NP_000360.2:n.392+146G>C