Canonical Allele Identifier: CA525422870

Gene: TSHB

Linked Data

• dbSNP Id: rs1227213731
• gnomAD v2: 1-115576355-C-T
• MyVariant Identifiers: chr1:g.115576355C>T (hg19) ; chr1:g.115033734C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115033734C>T , CM000663.2:g.115033734C>T	GRCh38
NC_000001.10:g.115576355C>T , CM000663.1:g.115576355C>T	GRCh37
NC_000001.9:g.115377878C>T	NCBI36
NG_015891.1:g.8941C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256592.3:c.162+210C>T MANE Select	ENSP00000256592.1:n.162+210C>T
ENST00000256592.2:c.162+210C>T	ENSP00000256592.1:n.162+210C>T
ENST00000369517.1:c.162+210C>T	ENSP00000358530.1:n.162+210C>T
NM_000549.4:c.162+210C>T	NP_000540.2:n.162+210C>T
XM_011542065.1:c.162+210C>T	XP_011540367.1:n.162+210C>T
XM_011542065.2:c.162+210C>T	XP_011540367.1:n.162+210C>T
NM_000549.5:c.162+210C>T MANE Select	NP_000540.2:n.162+210C>T