Canonical Allele Identifier: CA408405045
Gene: THBD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047833A>C , CM000682.2:g.23047833A>C GRCh38
NC_000020.10:g.23028470A>C , CM000682.1:g.23028470A>C GRCh37
NC_000020.9:g.22976470A>C NCBI36
NG_012027.1:g.6832T>G , LRG_168:g.6832T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1672T>G MANE Select ENSP00000366307.2:p.Ser558Ala
ENST00000377103.2:c.1672T>G ENSP00000366307.2:p.Ser558Ala
NM_000361.2:c.1672T>G , LRG_168t1:c.1672T>G NP_000352.1:p.Ser558Ala
NM_000361.3:c.1672T>G MANE Select NP_000352.1:p.Ser558Ala