Canonical Allele Identifier: CA341755326
Gene: TSHB HGNC NCBI

Linked Data

dbSNP Id: rs1674940507
gnomAD v3: 1-115033499-T-A
gnomAD v4: 1-115033499-T-A
MyVariant Identifiers: chr1:g.115576120T>A (hg19) chr1:g.115033499T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115033499T>A , CM000663.2:g.115033499T>A GRCh38
NC_000001.10:g.115576120T>A , CM000663.1:g.115576120T>A GRCh37
NC_000001.9:g.115377643T>A NCBI36
NG_015891.1:g.8706T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000256592.3:c.137T>A MANE Select ENSP00000256592.1:p.Ile46Asn
ENST00000256592.2:c.137T>A ENSP00000256592.1:p.Ile46Asn
ENST00000369517.1:c.137T>A ENSP00000358530.1:p.Ile46Asn
NM_000549.4:c.137T>A NP_000540.2:p.Ile46Asn
XM_011542065.1:c.137T>A XP_011540367.1:p.Ile46Asn
XM_011542065.2:c.137T>A XP_011540367.1:p.Ile46Asn
NM_000549.5:c.137T>A MANE Select NP_000540.2:p.Ile46Asn
Search 100 bp 5'
Search 100 bp 3'