Canonical Allele Identifier: CA1022532
Gene: TSHB HGNC NCBI

Linked Data

dbSNP Id: rs147989406
ExAC: 1:115576123 G / C
gnomAD v3: 1-115033502-G-C
gnomAD v4: 1-115033502-G-C
MyVariant Identifiers: chr1:g.115576123G>C (hg19) chr1:g.115033502G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115033502G>C , CM000663.2:g.115033502G>C GRCh38
NC_000001.10:g.115576123G>C , CM000663.1:g.115576123G>C GRCh37
NC_000001.9:g.115377646G>C NCBI36
NG_015891.1:g.8709G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000256592.3:c.140G>C MANE Select ENSP00000256592.1:p.Cys47Ser
ENST00000256592.2:c.140G>C ENSP00000256592.1:p.Cys47Ser
ENST00000369517.1:c.140G>C ENSP00000358530.1:p.Cys47Ser
NM_000549.4:c.140G>C NP_000540.2:p.Cys47Ser
XM_011542065.1:c.140G>C XP_011540367.1:p.Cys47Ser
XM_011542065.2:c.140G>C XP_011540367.1:p.Cys47Ser
NM_000549.5:c.140G>C MANE Select NP_000540.2:p.Cys47Ser
Search 100 bp 5'
Search 100 bp 3'