Canonical Allele Identifier: CA510160290
Gene: THBD HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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