Canonical Allele Identifier: CA2355680778
Gene: THBD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047871G= , CM000682.2:g.23047871G= GRCh38
NC_000020.10:g.23028508G= , CM000682.1:g.23028508G= GRCh37
NC_000020.9:g.22976508G= NCBI36
NG_012027.1:g.6794C= , LRG_168:g.6794C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1634C= MANE Select ENSP00000366307.2:p.Ala545=
ENST00000377103.2:c.1634C= ENSP00000366307.2:p.Ala545=
NM_000361.2:c.1634C= , LRG_168t1:c.1634C= NP_000352.1:p.Ala545=
NM_000361.3:c.1634C= MANE Select NP_000352.1:p.Ala545=