Canonical Allele Identifier: CA2355681547
Gene: THBD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23049379G= , CM000682.2:g.23049379G= GRCh38
NC_000020.10:g.23030016G= , CM000682.1:g.23030016G= GRCh37
NC_000020.9:g.22978016G= NCBI36
NG_012027.1:g.5286C= , LRG_168:g.5286C=

Transcript Alleles

HGVS Amino-acid change
ENST00000377103.3:c.126C= MANE Select ENSP00000366307.2:p.Pro42=
ENST00000377103.2:c.126C= ENSP00000366307.2:p.Pro42=
NM_000361.2:c.126C= , LRG_168t1:c.126C= NP_000352.1:p.Pro42=
NM_000361.3:c.126C= MANE Select NP_000352.1:p.Pro42=