Canonical Allele Identifier: CA510160231
Gene: THBD HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.23028639G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23048002G>T , CM000682.2:g.23048002G>T GRCh38
NC_000020.10:g.23028639G>T , CM000682.1:g.23028639G>T GRCh37
NC_000020.9:g.22976639G>T NCBI36
NG_012027.1:g.6663C>A , LRG_168:g.6663C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1503C>A MANE Select ENSP00000366307.2:p.Pro501=
ENST00000377103.2:c.1503C>A ENSP00000366307.2:p.Pro501=
NM_000361.2:c.1503C>A , LRG_168t1:c.1503C>A NP_000352.1:p.Pro501=
NM_000361.3:c.1503C>A MANE Select NP_000352.1:p.Pro501=