Canonical Allele Identifier: CA1022507
Gene: TSHB HGNC NCBI

Linked Data

dbSNP Id: rs111630216
ExAC: 1:115575936 C / T
gnomAD v2: 1-115575936-C-T
gnomAD v4: 1-115033315-C-T
MyVariant Identifiers: chr1:g.115575936C>T (hg19) chr1:g.115033315C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115033315C>T , CM000663.2:g.115033315C>T GRCh38
NC_000001.10:g.115575936C>T , CM000663.1:g.115575936C>T GRCh37
NC_000001.9:g.115377459C>T NCBI36
NG_015891.1:g.8522C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000256592.3:c.-1-47C>T MANE Select ENSP00000256592.1:n.-1-47C>T
ENST00000256592.2:c.-1-47C>T ENSP00000256592.1:n.-1-47C>T
NM_000549.4:c.-1-47C>T NP_000540.2:n.-1-47C>T
XM_011542065.1:c.-48C>T XP_011540367.1:n.-48C>T
XM_011542065.2:c.-48C>T XP_011540367.1:n.-48C>T
NM_000549.5:c.-1-47C>T MANE Select NP_000540.2:n.-1-47C>T
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