Canonical Allele Identifier: CA419891351

Gene: TSHB

Linked Data

• dbSNP Id: rs1483419434
• gnomAD v3: 1-115033461-G-A
• gnomAD v4: 1-115033461-G-A
• COSMIC: COSM3471718
• MyVariant Identifiers: chr1:g.115576082G>A (hg19) ; chr1:g.115033461G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115033461G>A , CM000663.2:g.115033461G>A	GRCh38
NC_000001.10:g.115576082G>A , CM000663.1:g.115576082G>A	GRCh37
NC_000001.9:g.115377605G>A	NCBI36
NG_015891.1:g.8668G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000256592.3:c.99G>A MANE Select	ENSP00000256592.1:p.Arg33=
ENST00000256592.2:c.99G>A	ENSP00000256592.1:p.Arg33=
ENST00000369517.1:c.99G>A	ENSP00000358530.1:p.Arg33=
NM_000549.4:c.99G>A	NP_000540.2:p.Arg33=
XM_011542065.1:c.99G>A	XP_011540367.1:p.Arg33=
XM_011542065.2:c.99G>A	XP_011540367.1:p.Arg33=
NM_000549.5:c.99G>A MANE Select	NP_000540.2:p.Arg33=