Canonical Allele Identifier: CA510160455
Gene: THBD HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.23028459T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047822T>G , CM000682.2:g.23047822T>G GRCh38
NC_000020.10:g.23028459T>G , CM000682.1:g.23028459T>G GRCh37
NC_000020.9:g.22976459T>G NCBI36
NG_012027.1:g.6843A>C , LRG_168:g.6843A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1683A>C MANE Select ENSP00000366307.2:p.Val561=
ENST00000377103.2:c.1683A>C ENSP00000366307.2:p.Val561=
NM_000361.2:c.1683A>C , LRG_168t1:c.1683A>C NP_000352.1:p.Val561=
NM_000361.3:c.1683A>C MANE Select NP_000352.1:p.Val561=