Canonical Allele Identifier: CA408405077
Gene: THBD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047848T>C , CM000682.2:g.23047848T>C GRCh38
NC_000020.10:g.23028485T>C , CM000682.1:g.23028485T>C GRCh37
NC_000020.9:g.22976485T>C NCBI36
NG_012027.1:g.6817A>G , LRG_168:g.6817A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1657A>G MANE Select ENSP00000366307.2:p.Lys553Glu
ENST00000377103.2:c.1657A>G ENSP00000366307.2:p.Lys553Glu
NM_000361.2:c.1657A>G , LRG_168t1:c.1657A>G NP_000352.1:p.Lys553Glu
NM_000361.3:c.1657A>G MANE Select NP_000352.1:p.Lys553Glu