Canonical Allele Identifier: CA510160265
Gene: THBD HGNC NCBI

Linked Data

gnomAD v4: 20-23048050-C-T
MyVariant Identifiers: chr20:g.23028687C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23048050C>T , CM000682.2:g.23048050C>T GRCh38
NC_000020.10:g.23028687C>T , CM000682.1:g.23028687C>T GRCh37
NC_000020.9:g.22976687C>T NCBI36
NG_012027.1:g.6615G>A , LRG_168:g.6615G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1455G>A MANE Select ENSP00000366307.2:p.Val485=
ENST00000377103.2:c.1455G>A ENSP00000366307.2:p.Val485=
NM_000361.2:c.1455G>A , LRG_168t1:c.1455G>A NP_000352.1:p.Val485=
NM_000361.3:c.1455G>A MANE Select NP_000352.1:p.Val485=
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