Canonical Allele Identifier: CA341755214

Gene: TSHB

Linked Data

• MyVariant Identifiers: chr1:g.115576101C>A (hg19) ; chr1:g.115033480C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115033480C>A , CM000663.2:g.115033480C>A	GRCh38
NC_000001.10:g.115576101C>A , CM000663.1:g.115576101C>A	GRCh37
NC_000001.9:g.115377624C>A	NCBI36
NG_015891.1:g.8687C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256592.3:c.118C>A MANE Select	ENSP00000256592.1:p.Leu40Ile
ENST00000256592.2:c.118C>A	ENSP00000256592.1:p.Leu40Ile
ENST00000369517.1:c.118C>A	ENSP00000358530.1:p.Leu40Ile
NM_000549.4:c.118C>A	NP_000540.2:p.Leu40Ile
XM_011542065.1:c.118C>A	XP_011540367.1:p.Leu40Ile
XM_011542065.2:c.118C>A	XP_011540367.1:p.Leu40Ile
NM_000549.5:c.118C>A MANE Select	NP_000540.2:p.Leu40Ile