Canonical Allele Identifier: CA29083587
Gene: TSHB HGNC NCBI

Linked Data

ClinVar Variation Id: 12688
ClinVar RCV Id: RCV000013525 RCV003556009
dbSNP Id: rs868637545
gnomAD v2: 1-115576150-G-A
gnomAD v3: 1-115033529-G-A
gnomAD v4: 1-115033529-G-A
MyVariant Identifiers: chr1:g.115576150G>A (hg19) chr1:g.115033529G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115033529G>A , CM000663.2:g.115033529G>A GRCh38
NC_000001.10:g.115576150G>A , CM000663.1:g.115576150G>A GRCh37
NC_000001.9:g.115377673G>A NCBI36
NG_015891.1:g.8736G>A

Transcript Alleles

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