Canonical Allele Identifier: CA408404970
Gene: THBD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047794T>C , CM000682.2:g.23047794T>C GRCh38
NC_000020.10:g.23028431T>C , CM000682.1:g.23028431T>C GRCh37
NC_000020.9:g.22976431T>C NCBI36
NG_012027.1:g.6871A>G , LRG_168:g.6871A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1711A>G MANE Select ENSP00000366307.2:p.Thr571Ala
ENST00000377103.2:c.1711A>G ENSP00000366307.2:p.Thr571Ala
NM_000361.2:c.1711A>G , LRG_168t1:c.1711A>G NP_000352.1:p.Thr571Ala
NM_000361.3:c.1711A>G MANE Select NP_000352.1:p.Thr571Ala