Canonical Allele Identifier: CA408408328
Gene: THBD HGNC NCBI

Linked Data

gnomAD v4: 20-23049380-G-T
MyVariant Identifiers: chr20:g.23030017G>T (hg19) chr20:g.23049380G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23049380G>T , CM000682.2:g.23049380G>T GRCh38
NC_000020.10:g.23030017G>T , CM000682.1:g.23030017G>T GRCh37
NC_000020.9:g.22978017G>T NCBI36
NG_012027.1:g.5285C>A , LRG_168:g.5285C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000377103.3:c.125C>A MANE Select ENSP00000366307.2:p.Pro42His
ENST00000377103.2:c.125C>A ENSP00000366307.2:p.Pro42His
NM_000361.2:c.125C>A , LRG_168t1:c.125C>A NP_000352.1:p.Pro42His
NM_000361.3:c.125C>A MANE Select NP_000352.1:p.Pro42His
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