Canonical Allele Identifier: CA29083524
Gene: TSHB HGNC NCBI

Linked Data

ClinVar Variation Id: 3006488
ClinVar RCV Id: RCV003866639
dbSNP Id: rs1022924956
gnomAD v2: 1-115576115-C-T
gnomAD v4: 1-115033494-C-T
MyVariant Identifiers: chr1:g.115576115C>T (hg19) chr1:g.115033494C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115033494C>T , CM000663.2:g.115033494C>T GRCh38
NC_000001.10:g.115576115C>T , CM000663.1:g.115576115C>T GRCh37
NC_000001.9:g.115377638C>T NCBI36
NG_015891.1:g.8701C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000256592.3:c.132C>T MANE Select ENSP00000256592.1:p.Thr44=
ENST00000256592.2:c.132C>T ENSP00000256592.1:p.Thr44=
ENST00000369517.1:c.132C>T ENSP00000358530.1:p.Thr44=
NM_000549.4:c.132C>T NP_000540.2:p.Thr44=
XM_011542065.1:c.132C>T XP_011540367.1:p.Thr44=
XM_011542065.2:c.132C>T XP_011540367.1:p.Thr44=
NM_000549.5:c.132C>T MANE Select NP_000540.2:p.Thr44=
Search 100 bp 5'
Search 100 bp 3'