Canonical Allele Identifier: CA510160448
Gene: THBD HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.23028456C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047819C>A , CM000682.2:g.23047819C>A GRCh38
NC_000020.10:g.23028456C>A , CM000682.1:g.23028456C>A GRCh37
NC_000020.9:g.22976456C>A NCBI36
NG_012027.1:g.6846G>T , LRG_168:g.6846G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1686G>T MANE Select ENSP00000366307.2:p.Val562=
ENST00000377103.2:c.1686G>T ENSP00000366307.2:p.Val562=
NM_000361.2:c.1686G>T , LRG_168t1:c.1686G>T NP_000352.1:p.Val562=
NM_000361.3:c.1686G>T MANE Select NP_000352.1:p.Val562=
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