Canonical Allele Identifier: CA510160288
Gene: THBD HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.23028726A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23048089A>T , CM000682.2:g.23048089A>T GRCh38
NC_000020.10:g.23028726A>T , CM000682.1:g.23028726A>T GRCh37
NC_000020.9:g.22976726A>T NCBI36
NG_012027.1:g.6576T>A , LRG_168:g.6576T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000377103.3:c.1416T>A MANE Select ENSP00000366307.2:p.Leu472=
ENST00000377103.2:c.1416T>A ENSP00000366307.2:p.Leu472=
NM_000361.2:c.1416T>A , LRG_168t1:c.1416T>A NP_000352.1:p.Leu472=
NM_000361.3:c.1416T>A MANE Select NP_000352.1:p.Leu472=