Canonical Allele Identifier: CA341754845
Gene: TSHB HGNC NCBI

Linked Data

dbSNP Id: rs780251418
gnomAD v2: 1-115576053-C-G
MyVariant Identifiers: chr1:g.115576053C>G (hg19) chr1:g.115033432C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115033432C>G , CM000663.2:g.115033432C>G GRCh38
NC_000001.10:g.115576053C>G , CM000663.1:g.115576053C>G GRCh37
NC_000001.9:g.115377576C>G NCBI36
NG_015891.1:g.8639C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000256592.3:c.70C>G MANE Select ENSP00000256592.1:p.Pro24Ala
ENST00000256592.2:c.70C>G ENSP00000256592.1:p.Pro24Ala
ENST00000369517.1:c.70C>G ENSP00000358530.1:p.Pro24Ala
NM_000549.4:c.70C>G NP_000540.2:p.Pro24Ala
XM_011542065.1:c.70C>G XP_011540367.1:p.Pro24Ala
XM_011542065.2:c.70C>G XP_011540367.1:p.Pro24Ala
NM_000549.5:c.70C>G MANE Select NP_000540.2:p.Pro24Ala
Search 100 bp 5'
Search 100 bp 3'