Canonical Allele Identifier: CA341755189
Gene: TSHB HGNC NCBI

Linked Data

dbSNP Id: rs1430418408
gnomAD v3: 1-115033476-T-A
gnomAD v4: 1-115033476-T-A
MyVariant Identifiers: chr1:g.115576097T>A (hg19) chr1:g.115033476T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115033476T>A , CM000663.2:g.115033476T>A GRCh38
NC_000001.10:g.115576097T>A , CM000663.1:g.115576097T>A GRCh37
NC_000001.9:g.115377620T>A NCBI36
NG_015891.1:g.8683T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000256592.3:c.114T>A MANE Select ENSP00000256592.1:p.Tyr38Ter
ENST00000256592.2:c.114T>A ENSP00000256592.1:p.Tyr38Ter
ENST00000369517.1:c.114T>A ENSP00000358530.1:p.Tyr38Ter
NM_000549.4:c.114T>A NP_000540.2:p.Tyr38Ter
XM_011542065.1:c.114T>A XP_011540367.1:p.Tyr38Ter
XM_011542065.2:c.114T>A XP_011540367.1:p.Tyr38Ter
NM_000549.5:c.114T>A MANE Select NP_000540.2:p.Tyr38Ter
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