Canonical Allele Identifier: CA2355680783
Gene: THBD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047886C= , CM000682.2:g.23047886C= GRCh38
NC_000020.10:g.23028523C= , CM000682.1:g.23028523C= GRCh37
NC_000020.9:g.22976523C= NCBI36
NG_012027.1:g.6779G= , LRG_168:g.6779G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1619G= MANE Select ENSP00000366307.2:p.Arg540=
ENST00000377103.2:c.1619G= ENSP00000366307.2:p.Arg540=
NM_000361.2:c.1619G= , LRG_168t1:c.1619G= NP_000352.1:p.Arg540=
NM_000361.3:c.1619G= MANE Select NP_000352.1:p.Arg540=