Canonical Allele Identifier: CA408408143
Gene: THBD HGNC NCBI

Linked Data

dbSNP Id: rs1984676284
gnomAD v4: 20-23049290-G-A
MyVariant Identifiers: chr20:g.23029927G>A (hg19) chr20:g.23049290G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23049290G>A , CM000682.2:g.23049290G>A GRCh38
NC_000020.10:g.23029927G>A , CM000682.1:g.23029927G>A GRCh37
NC_000020.9:g.22977927G>A NCBI36
NG_012027.1:g.5375C>T , LRG_168:g.5375C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000377103.3:c.215C>T MANE Select ENSP00000366307.2:p.Ser72Phe
ENST00000377103.2:c.215C>T ENSP00000366307.2:p.Ser72Phe
NM_000361.2:c.215C>T , LRG_168t1:c.215C>T NP_000352.1:p.Ser72Phe
NM_000361.3:c.215C>T MANE Select NP_000352.1:p.Ser72Phe
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