Canonical Allele Identifier: CA2739713807
Gene: THBD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23049569G>T , CM000682.2:g.23049569G>T GRCh38
NC_000020.10:g.23030206G>T , CM000682.1:g.23030206G>T GRCh37
NC_000020.9:g.22978206G>T NCBI36
NG_012027.1:g.5096C>A , LRG_168:g.5096C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.-65C>A MANE Select ENSP00000366307.2:n.-65C>A
ENST00000377103.2:c.-65C>A ENSP00000366307.2:n.-65C>A
NM_000361.2:c.-65C>A , LRG_168t1:c.-65C>A NP_000352.1:n.-65C>A
NM_000361.3:c.-65C>A MANE Select NP_000352.1:n.-65C>A