Canonical Allele Identifier: CA408405026
Gene: THBD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047824C>G , CM000682.2:g.23047824C>G GRCh38
NC_000020.10:g.23028461C>G , CM000682.1:g.23028461C>G GRCh37
NC_000020.9:g.22976461C>G NCBI36
NG_012027.1:g.6841G>C , LRG_168:g.6841G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1681G>C MANE Select ENSP00000366307.2:p.Val561Leu
ENST00000377103.2:c.1681G>C ENSP00000366307.2:p.Val561Leu
NM_000361.2:c.1681G>C , LRG_168t1:c.1681G>C NP_000352.1:p.Val561Leu
NM_000361.3:c.1681G>C MANE Select NP_000352.1:p.Val561Leu