Canonical Allele Identifier: CA408404983
Gene: THBD HGNC NCBI

Linked Data

gnomAD v4: 20-23047802-G-A
MyVariant Identifiers: chr20:g.23028439G>A (hg19) chr20:g.23047802G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047802G>A , CM000682.2:g.23047802G>A GRCh38
NC_000020.10:g.23028439G>A , CM000682.1:g.23028439G>A GRCh37
NC_000020.9:g.22976439G>A NCBI36
NG_012027.1:g.6863C>T , LRG_168:g.6863C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1703C>T MANE Select ENSP00000366307.2:p.Thr568Ile
ENST00000377103.2:c.1703C>T ENSP00000366307.2:p.Thr568Ile
NM_000361.2:c.1703C>T , LRG_168t1:c.1703C>T NP_000352.1:p.Thr568Ile
NM_000361.3:c.1703C>T MANE Select NP_000352.1:p.Thr568Ile
Search 100 bp 5'
Search 100 bp 3'