Canonical Allele Identifier: CA1022534
Gene: TSHB HGNC NCBI

Linked Data

ClinVar Variation Id: 2709875
ClinVar RCV Id: RCV003550157
dbSNP Id: rs759140700
ExAC: 1:115576142 A / G
gnomAD v2: 1-115576142-A-G
gnomAD v4: 1-115033521-A-G
MyVariant Identifiers: chr1:g.115576142A>G (hg19) chr1:g.115033521A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115033521A>G , CM000663.2:g.115033521A>G GRCh38
NC_000001.10:g.115576142A>G , CM000663.1:g.115576142A>G GRCh37
NC_000001.9:g.115377665A>G NCBI36
NG_015891.1:g.8728A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000256592.3:c.159A>G MANE Select ENSP00000256592.1:p.Thr53=
ENST00000256592.2:c.159A>G ENSP00000256592.1:p.Thr53=
ENST00000369517.1:c.159A>G ENSP00000358530.1:p.Thr53=
NM_000549.4:c.159A>G NP_000540.2:p.Thr53=
XM_011542065.1:c.159A>G XP_011540367.1:p.Thr53=
XM_011542065.2:c.159A>G XP_011540367.1:p.Thr53=
NM_000549.5:c.159A>G MANE Select NP_000540.2:p.Thr53=
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Search 100 bp 3'