Canonical Allele Identifier: CA510160835
Gene: THBD HGNC NCBI

Linked Data

dbSNP Id: rs1568665674
gnomAD v4: 20-23047927-C-T
MyVariant Identifiers: chr20:g.23028564C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047927C>T , CM000682.2:g.23047927C>T GRCh38
NC_000020.10:g.23028564C>T , CM000682.1:g.23028564C>T GRCh37
NC_000020.9:g.22976564C>T NCBI36
NG_012027.1:g.6738G>A , LRG_168:g.6738G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1578G>A MANE Select ENSP00000366307.2:p.Leu526=
ENST00000377103.2:c.1578G>A ENSP00000366307.2:p.Leu526=
NM_000361.2:c.1578G>A , LRG_168t1:c.1578G>A NP_000352.1:p.Leu526=
NM_000361.3:c.1578G>A MANE Select NP_000352.1:p.Leu526=
Search 100 bp 5'
Search 100 bp 3'