Canonical Allele Identifier: CA341755414
Gene: TSHB HGNC NCBI

Linked Data

dbSNP Id: rs1244551775
gnomAD v3: 1-115033518-G-A
gnomAD v4: 1-115033518-G-A
MyVariant Identifiers: chr1:g.115576139G>A (hg19) chr1:g.115033518G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115033518G>A , CM000663.2:g.115033518G>A GRCh38
NC_000001.10:g.115576139G>A , CM000663.1:g.115576139G>A GRCh37
NC_000001.9:g.115377662G>A NCBI36
NG_015891.1:g.8725G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000256592.3:c.156G>A MANE Select ENSP00000256592.1:p.Met52Ile
ENST00000256592.2:c.156G>A ENSP00000256592.1:p.Met52Ile
ENST00000369517.1:c.156G>A ENSP00000358530.1:p.Met52Ile
NM_000549.4:c.156G>A NP_000540.2:p.Met52Ile
XM_011542065.1:c.156G>A XP_011540367.1:p.Met52Ile
XM_011542065.2:c.156G>A XP_011540367.1:p.Met52Ile
NM_000549.5:c.156G>A MANE Select NP_000540.2:p.Met52Ile
Search 100 bp 5'
Search 100 bp 3'