Canonical Allele Identifier: CA2575593023

Gene: TSHR

Linked Data

• ClinVar Variation Id: 2803416
• ClinVar RCV Id: RCV003681499
• gnomAD v4: 14-81062235-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81062235A>G , CM000676.2:g.81062235A>G	GRCh38
NC_000014.8:g.81528579A>G , CM000676.1:g.81528579A>G	GRCh37
NC_000014.7:g.80598332A>G	NCBI36
NG_009206.1:g.111711A>G , LRG_523:g.111711A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.242+16A>G MANE Select	ENSP00000298171.2:n.242+16A>G
ENST00000298171.6:c.242+16A>G	ENSP00000298171.2:n.242+16A>G
ENST00000342443.10:c.242+16A>G	ENSP00000340113.6:n.242+16A>G
ENST00000541158.6:c.242+16A>G	ENSP00000441235.2:n.242+16A>G
ENST00000553763.1:n.342+16A>G
ENST00000554263.5:c.242+16A>G	ENSP00000451202.1:n.242+16A>G
ENST00000554435.1:c.242+16A>G	ENSP00000450549.1:n.242+16A>G
ENST00000555326.5:c.242+16A>G	ENSP00000451092.1:n.242+16A>G
NM_000369.2:c.242+16A>G , LRG_523t1:c.242+16A>G	NP_000360.2:n.242+16A>G
NM_001018036.2:c.242+16A>G	NP_001018046.1:n.242+16A>G
NM_001142626.2:c.242+16A>G	NP_001136098.1:n.242+16A>G
XM_005268037.3:c.242+16A>G	XP_005268094.1:n.242+16A>G
XM_005268039.1:c.242+16A>G	XP_005268096.1:n.242+16A>G
XM_006720245.1:c.242+16A>G	XP_006720308.1:n.242+16A>G
XM_011537119.1:c.-87+16A>G	XP_011535421.1:n.-87+16A>G
XR_245790.3:n.3676-8419T>C
XR_944075.1:n.2549-8419T>C
XR_944076.1:n.1442-8419T>C
XR_944077.1:n.2455-8419T>C
XR_944078.1:n.2455-8419T>C
XM_005268037.4:c.242+16A>G	XP_005268094.1:n.242+16A>G
XM_011537119.2:c.-87+16A>G	XP_011535421.1:n.-87+16A>G
XR_001751018.2:n.1989-8419T>C
XR_001751019.2:n.1895-8419T>C
XR_001751020.2:n.886-8419T>C
XR_001751021.1:n.4437-8419T>C
XR_001751022.1:n.3334-8419T>C
XR_001751023.1:n.4476-8419T>C
XR_001751024.2:n.1989-8419T>C
XR_944075.3:n.2613-8419T>C
NM_000369.4:c.242+16A>G	NP_000360.2:n.242+16A>G
NM_001018036.3:c.242+16A>G	NP_001018046.1:n.242+16A>G
NM_001142626.3:c.242+16A>G	NP_001136098.1:n.242+16A>G
NM_000369.5:c.242+16A>G MANE Select	NP_000360.2:n.242+16A>G