Canonical Allele Identifier: CA510160371
Gene: THBD HGNC NCBI

Linked Data

dbSNP Id: rs1600409422
MyVariant Identifiers: chr20:g.23028750G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23048113G>A , CM000682.2:g.23048113G>A GRCh38
NC_000020.10:g.23028750G>A , CM000682.1:g.23028750G>A GRCh37
NC_000020.9:g.22976750G>A NCBI36
NG_012027.1:g.6552C>T , LRG_168:g.6552C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000377103.3:c.1392C>T MANE Select ENSP00000366307.2:p.Cys464=
ENST00000377103.2:c.1392C>T ENSP00000366307.2:p.Cys464=
NM_000361.2:c.1392C>T , LRG_168t1:c.1392C>T NP_000352.1:p.Cys464=
NM_000361.3:c.1392C>T MANE Select NP_000352.1:p.Cys464=
Search 100 bp 5'
Search 100 bp 3'