Canonical Allele Identifier: CA408405119
Gene: THBD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047865C>G , CM000682.2:g.23047865C>G GRCh38
NC_000020.10:g.23028502C>G , CM000682.1:g.23028502C>G GRCh37
NC_000020.9:g.22976502C>G NCBI36
NG_012027.1:g.6800G>C , LRG_168:g.6800G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1640G>C MANE Select ENSP00000366307.2:p.Arg547Thr
ENST00000377103.2:c.1640G>C ENSP00000366307.2:p.Arg547Thr
NM_000361.2:c.1640G>C , LRG_168t1:c.1640G>C NP_000352.1:p.Arg547Thr
NM_000361.3:c.1640G>C MANE Select NP_000352.1:p.Arg547Thr