Canonical Allele Identifier: CA408405134
Gene: THBD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047874C>T , CM000682.2:g.23047874C>T GRCh38
NC_000020.10:g.23028511C>T , CM000682.1:g.23028511C>T GRCh37
NC_000020.9:g.22976511C>T NCBI36
NG_012027.1:g.6791G>A , LRG_168:g.6791G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1631G>A MANE Select ENSP00000366307.2:p.Gly544Asp
ENST00000377103.2:c.1631G>A ENSP00000366307.2:p.Gly544Asp
NM_000361.2:c.1631G>A , LRG_168t1:c.1631G>A NP_000352.1:p.Gly544Asp
NM_000361.3:c.1631G>A MANE Select NP_000352.1:p.Gly544Asp