Canonical Allele Identifier: CA341755405

Gene: TSHB

Linked Data

• gnomAD v4: 1-115033516-A-G
• MyVariant Identifiers: chr1:g.115576137A>G (hg19) ; chr1:g.115033516A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115033516A>G , CM000663.2:g.115033516A>G	GRCh38
NC_000001.10:g.115576137A>G , CM000663.1:g.115576137A>G	GRCh37
NC_000001.9:g.115377660A>G	NCBI36
NG_015891.1:g.8723A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000256592.3:c.154A>G MANE Select	ENSP00000256592.1:p.Met52Val
ENST00000256592.2:c.154A>G	ENSP00000256592.1:p.Met52Val
ENST00000369517.1:c.154A>G	ENSP00000358530.1:p.Met52Val
NM_000549.4:c.154A>G	NP_000540.2:p.Met52Val
XM_011542065.1:c.154A>G	XP_011540367.1:p.Met52Val
XM_011542065.2:c.154A>G	XP_011540367.1:p.Met52Val
NM_000549.5:c.154A>G MANE Select	NP_000540.2:p.Met52Val