Canonical Allele Identifier: CA341755346

Gene: TSHB

Linked Data

• gnomAD v4: 1-115033503-T-G
• MyVariant Identifiers: chr1:g.115576124T>G (hg19) ; chr1:g.115033503T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115033503T>G , CM000663.2:g.115033503T>G	GRCh38
NC_000001.10:g.115576124T>G , CM000663.1:g.115576124T>G	GRCh37
NC_000001.9:g.115377647T>G	NCBI36
NG_015891.1:g.8710T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256592.3:c.141T>G MANE Select	ENSP00000256592.1:p.Cys47Trp
ENST00000256592.2:c.141T>G	ENSP00000256592.1:p.Cys47Trp
ENST00000369517.1:c.141T>G	ENSP00000358530.1:p.Cys47Trp
NM_000549.4:c.141T>G	NP_000540.2:p.Cys47Trp
XM_011542065.1:c.141T>G	XP_011540367.1:p.Cys47Trp
XM_011542065.2:c.141T>G	XP_011540367.1:p.Cys47Trp
NM_000549.5:c.141T>G MANE Select	NP_000540.2:p.Cys47Trp