Canonical Allele Identifier: CA9787794
Gene: THBD HGNC NCBI

Linked Data

ClinVar Variation Id: 1374247
ClinVar RCV Id: RCV001877736
dbSNP Id: rs776866172
ExAC: 20:23030026 T / A
gnomAD v2: 20-23030026-T-A
gnomAD v3: 20-23049389-T-A
gnomAD v4: 20-23049389-T-A
MyVariant Identifiers: chr20:g.23030026T>A (hg19) chr20:g.23049389T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23049389T>A , CM000682.2:g.23049389T>A GRCh38
NC_000020.10:g.23030026T>A , CM000682.1:g.23030026T>A GRCh37
NC_000020.9:g.22978026T>A NCBI36
NG_012027.1:g.5276A>T , LRG_168:g.5276A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000377103.3:c.116A>T MANE Select ENSP00000366307.2:p.Tyr39Phe
ENST00000377103.2:c.116A>T ENSP00000366307.2:p.Tyr39Phe
NM_000361.2:c.116A>T , LRG_168t1:c.116A>T NP_000352.1:p.Tyr39Phe
NM_000361.3:c.116A>T MANE Select NP_000352.1:p.Tyr39Phe
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Search 100 bp 3'