Canonical Allele Identifier: CA2355680768
Gene: THBD HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047846C= , CM000682.2:g.23047846C= GRCh38
NC_000020.10:g.23028483C= , CM000682.1:g.23028483C= GRCh37
NC_000020.9:g.22976483C= NCBI36
NG_012027.1:g.6819G= , LRG_168:g.6819G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1659G= MANE Select ENSP00000366307.2:p.Lys553=
ENST00000377103.2:c.1659G= ENSP00000366307.2:p.Lys553=
NM_000361.2:c.1659G= , LRG_168t1:c.1659G= NP_000352.1:p.Lys553=
NM_000361.3:c.1659G= MANE Select NP_000352.1:p.Lys553=
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