Canonical Allele Identifier: CA525631184
Gene: TSHB HGNC NCBI

Linked Data

dbSNP Id: rs1345337212
gnomAD v2: 1-115575939-T-G
gnomAD v4: 1-115033318-T-G
MyVariant Identifiers: chr1:g.115575939T>G (hg19) chr1:g.115033318T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115033318T>G , CM000663.2:g.115033318T>G GRCh38
NC_000001.10:g.115575939T>G , CM000663.1:g.115575939T>G GRCh37
NC_000001.9:g.115377462T>G NCBI36
NG_015891.1:g.8525T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000256592.3:c.-1-44T>G MANE Select ENSP00000256592.1:n.-1-44T>G
ENST00000256592.2:c.-1-44T>G ENSP00000256592.1:n.-1-44T>G
NM_000549.4:c.-1-44T>G NP_000540.2:n.-1-44T>G
XM_011542065.1:c.-45T>G XP_011540367.1:n.-45T>G
XM_011542065.2:c.-45T>G XP_011540367.1:n.-45T>G
NM_000549.5:c.-1-44T>G MANE Select NP_000540.2:n.-1-44T>G
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