Canonical Allele Identifier: CA510160292
Gene: THBD HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.23028729G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23048092G>T , CM000682.2:g.23048092G>T GRCh38
NC_000020.10:g.23028729G>T , CM000682.1:g.23028729G>T GRCh37
NC_000020.9:g.22976729G>T NCBI36
NG_012027.1:g.6573C>A , LRG_168:g.6573C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000377103.3:c.1413C>A MANE Select ENSP00000366307.2:p.Ala471=
ENST00000377103.2:c.1413C>A ENSP00000366307.2:p.Ala471=
NM_000361.2:c.1413C>A , LRG_168t1:c.1413C>A NP_000352.1:p.Ala471=
NM_000361.3:c.1413C>A MANE Select NP_000352.1:p.Ala471=