Canonical Allele Identifier: CA408405030
Gene: THBD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047826T>A , CM000682.2:g.23047826T>A GRCh38
NC_000020.10:g.23028463T>A , CM000682.1:g.23028463T>A GRCh37
NC_000020.9:g.22976463T>A NCBI36
NG_012027.1:g.6839A>T , LRG_168:g.6839A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1679A>T MANE Select ENSP00000366307.2:p.Glu560Val
ENST00000377103.2:c.1679A>T ENSP00000366307.2:p.Glu560Val
NM_000361.2:c.1679A>T , LRG_168t1:c.1679A>T NP_000352.1:p.Glu560Val
NM_000361.3:c.1679A>T MANE Select NP_000352.1:p.Glu560Val