Canonical Allele Identifier: CA29083430

Gene: TSHB

Linked Data

• dbSNP Id: rs10776792
• gnomAD v4: 1-115033402-A-C
• MyVariant Identifiers: chr1:g.115576023A>C (hg19) ; chr1:g.115033402A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115033402A>C , CM000663.2:g.115033402A>C	GRCh38
NC_000001.10:g.115576023A>C , CM000663.1:g.115576023A>C	GRCh37
NC_000001.9:g.115377546A>C	NCBI36
NG_015891.1:g.8609A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256592.3:c.40A>C MANE Select	ENSP00000256592.1:p.Thr14Pro
ENST00000256592.2:c.40A>C	ENSP00000256592.1:p.Thr14Pro
ENST00000369517.1:c.40A>C	ENSP00000358530.1:p.Thr14Pro
NM_000549.4:c.40A>C	NP_000540.2:p.Thr14Pro
XM_011542065.1:c.40A>C	XP_011540367.1:p.Thr14Pro
XM_011542065.2:c.40A>C	XP_011540367.1:p.Thr14Pro
NM_000549.5:c.40A>C MANE Select	NP_000540.2:p.Thr14Pro