Canonical Allele Identifier: CA408405585
Gene: THBD HGNC NCBI

Linked Data

dbSNP Id: rs780533499
gnomAD v2: 20-23028737-C-T
gnomAD v4: 20-23048100-C-T
MyVariant Identifiers: chr20:g.23028737C>T (hg19) chr20:g.23048100C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23048100C>T , CM000682.2:g.23048100C>T GRCh38
NC_000020.10:g.23028737C>T , CM000682.1:g.23028737C>T GRCh37
NC_000020.9:g.22976737C>T NCBI36
NG_012027.1:g.6565G>A , LRG_168:g.6565G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1405G>A MANE Select ENSP00000366307.2:p.Asp469Asn
ENST00000377103.2:c.1405G>A ENSP00000366307.2:p.Asp469Asn
NM_000361.2:c.1405G>A , LRG_168t1:c.1405G>A NP_000352.1:p.Asp469Asn
NM_000361.3:c.1405G>A MANE Select NP_000352.1:p.Asp469Asn
Search 100 bp 5'
Search 100 bp 3'