Canonical Allele Identifier: CA408405054
Gene: THBD HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1667C>A MANE Select ENSP00000366307.2:p.Ala556Asp
ENST00000377103.2:c.1667C>A ENSP00000366307.2:p.Ala556Asp
NM_000361.2:c.1667C>A , LRG_168t1:c.1667C>A NP_000352.1:p.Ala556Asp
NM_000361.3:c.1667C>A MANE Select NP_000352.1:p.Ala556Asp