Canonical Allele Identifier: CA408405052
Gene: THBD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047838G>A , CM000682.2:g.23047838G>A GRCh38
NC_000020.10:g.23028475G>A , CM000682.1:g.23028475G>A GRCh37
NC_000020.9:g.22976475G>A NCBI36
NG_012027.1:g.6827C>T , LRG_168:g.6827C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1667C>T MANE Select ENSP00000366307.2:p.Ala556Val
ENST00000377103.2:c.1667C>T ENSP00000366307.2:p.Ala556Val
NM_000361.2:c.1667C>T , LRG_168t1:c.1667C>T NP_000352.1:p.Ala556Val
NM_000361.3:c.1667C>T MANE Select NP_000352.1:p.Ala556Val