Canonical Allele Identifier: CA2575593195

Gene: TSHR

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81092655G>C , CM000676.2:g.81092655G>C	GRCh38
NC_000014.8:g.81558999G>C , CM000676.1:g.81558999G>C	GRCh37
NC_000014.7:g.80628752G>C	NCBI36
NG_009206.1:g.142131G>C , LRG_523:g.142131G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.545+47G>C MANE Select	ENSP00000298171.2:n.545+47G>C
ENST00000636454.1:n.463+47G>C
ENST00000298171.6:c.545+47G>C	ENSP00000298171.2:n.545+47G>C
ENST00000342443.10:c.545+47G>C	ENSP00000340113.6:n.545+47G>C
ENST00000541158.6:c.545+47G>C	ENSP00000441235.2:n.545+47G>C
ENST00000554263.5:c.545+47G>C	ENSP00000451202.1:n.545+47G>C
ENST00000554435.1:c.545+47G>C	ENSP00000450549.1:n.545+47G>C
NM_000369.2:c.545+47G>C , LRG_523t1:c.545+47G>C	NP_000360.2:n.545+47G>C
NM_001018036.2:c.545+47G>C	NP_001018046.1:n.545+47G>C
NM_001142626.2:c.545+47G>C	NP_001136098.1:n.545+47G>C
XM_005268037.3:c.545+47G>C	XP_005268094.1:n.545+47G>C
XM_005268039.1:c.545+47G>C	XP_005268096.1:n.545+47G>C
XM_006720245.1:c.545+47G>C	XP_006720308.1:n.545+47G>C
XM_011537119.1:c.266+47G>C	XP_011535421.1:n.266+47G>C
XR_245790.3:n.2480+927C>G
XR_944075.1:n.1260-248C>G
XR_944076.1:n.1255+927C>G
XR_944077.1:n.1259+927C>G
XR_944078.1:n.1259+927C>G
XM_005268037.4:c.545+47G>C	XP_005268094.1:n.545+47G>C
XM_011537119.2:c.266+47G>C	XP_011535421.1:n.266+47G>C
XR_001751018.2:n.700-248C>G
XR_001751019.2:n.699+927C>G
XR_001751020.2:n.699+927C>G
XR_001751021.1:n.3148-248C>G
XR_001751022.1:n.3147+927C>G
XR_001751023.1:n.3280+927C>G
XR_001751024.2:n.700-248C>G
XR_944075.3:n.1324-248C>G
NM_000369.4:c.545+47G>C	NP_000360.2:n.545+47G>C
NM_001018036.3:c.545+47G>C	NP_001018046.1:n.545+47G>C
NM_001142626.3:c.545+47G>C	NP_001136098.1:n.545+47G>C
NM_000369.5:c.545+47G>C MANE Select	NP_000360.2:n.545+47G>C