Canonical Allele Identifier: CA408405162
Gene: THBD HGNC NCBI

Linked Data

dbSNP Id: rs751318683
gnomAD v4: 20-23047886-C-A
MyVariant Identifiers: chr20:g.23028523C>A (hg19) chr20:g.23047886C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047886C>A , CM000682.2:g.23047886C>A GRCh38
NC_000020.10:g.23028523C>A , CM000682.1:g.23028523C>A GRCh37
NC_000020.9:g.22976523C>A NCBI36
NG_012027.1:g.6779G>T , LRG_168:g.6779G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1619G>T MANE Select ENSP00000366307.2:p.Arg540Leu
ENST00000377103.2:c.1619G>T ENSP00000366307.2:p.Arg540Leu
NM_000361.2:c.1619G>T , LRG_168t1:c.1619G>T NP_000352.1:p.Arg540Leu
NM_000361.3:c.1619G>T MANE Select NP_000352.1:p.Arg540Leu
Search 100 bp 5'
Search 100 bp 3'