Canonical Allele Identifier: CA419891434
Gene: TSHB HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.115576127T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115033506T>G , CM000663.2:g.115033506T>G GRCh38
NC_000001.10:g.115576127T>G , CM000663.1:g.115576127T>G GRCh37
NC_000001.9:g.115377650T>G NCBI36
NG_015891.1:g.8713T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000256592.3:c.144T>G MANE Select ENSP00000256592.1:p.Ala48=
ENST00000256592.2:c.144T>G ENSP00000256592.1:p.Ala48=
ENST00000369517.1:c.144T>G ENSP00000358530.1:p.Ala48=
NM_000549.4:c.144T>G NP_000540.2:p.Ala48=
XM_011542065.1:c.144T>G XP_011540367.1:p.Ala48=
XM_011542065.2:c.144T>G XP_011540367.1:p.Ala48=
NM_000549.5:c.144T>G MANE Select NP_000540.2:p.Ala48=