Canonical Allele Identifier: CA408405147
Gene: THBD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047879C>A , CM000682.2:g.23047879C>A GRCh38
NC_000020.10:g.23028516C>A , CM000682.1:g.23028516C>A GRCh37
NC_000020.9:g.22976516C>A NCBI36
NG_012027.1:g.6786G>T , LRG_168:g.6786G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1626G>T MANE Select ENSP00000366307.2:p.Lys542Asn
ENST00000377103.2:c.1626G>T ENSP00000366307.2:p.Lys542Asn
NM_000361.2:c.1626G>T , LRG_168t1:c.1626G>T NP_000352.1:p.Lys542Asn
NM_000361.3:c.1626G>T MANE Select NP_000352.1:p.Lys542Asn