Canonical Allele Identifier: CA122627
Gene: TSHB HGNC NCBI

Linked Data

ClinVar Variation Id: 12684
ClinVar RCV Id: RCV000013521
dbSNP Id: rs121918668

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115033507G>A , CM000663.2:g.115033507G>A GRCh38
NC_000001.10:g.115576128G>A , CM000663.1:g.115576128G>A GRCh37
NC_000001.9:g.115377651G>A NCBI36
NG_015891.1:g.8714G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000256592.3:c.145G>A MANE Select ENSP00000256592.1:p.Gly49Arg
ENST00000256592.2:c.145G>A ENSP00000256592.1:p.Gly49Arg
ENST00000369517.1:c.145G>A ENSP00000358530.1:p.Gly49Arg
NM_000549.4:c.145G>A NP_000540.2:p.Gly49Arg
XM_011542065.1:c.145G>A XP_011540367.1:p.Gly49Arg
XM_011542065.2:c.145G>A XP_011540367.1:p.Gly49Arg
NM_000549.5:c.145G>A MANE Select NP_000540.2:p.Gly49Arg