Canonical Allele Identifier: CA408405517
Gene: THBD HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.23028702A>C (hg19) chr20:g.23048065A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23048065A>C , CM000682.2:g.23048065A>C GRCh38
NC_000020.10:g.23028702A>C , CM000682.1:g.23028702A>C GRCh37
NC_000020.9:g.22976702A>C NCBI36
NG_012027.1:g.6600T>G , LRG_168:g.6600T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1440T>G MANE Select ENSP00000366307.2:p.Cys480Trp
ENST00000377103.2:c.1440T>G ENSP00000366307.2:p.Cys480Trp
NM_000361.2:c.1440T>G , LRG_168t1:c.1440T>G NP_000352.1:p.Cys480Trp
NM_000361.3:c.1440T>G MANE Select NP_000352.1:p.Cys480Trp
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