Canonical Allele Identifier: CA408408340
Gene: THBD HGNC NCBI

Linked Data

ClinVar Variation Id: 3008387
ClinVar RCV Id: RCV003867050
MyVariant Identifiers: chr20:g.23030024G>C (hg19) chr20:g.23049387G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23049387G>C , CM000682.2:g.23049387G>C GRCh38
NC_000020.10:g.23030024G>C , CM000682.1:g.23030024G>C GRCh37
NC_000020.9:g.22978024G>C NCBI36
NG_012027.1:g.5278C>G , LRG_168:g.5278C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000377103.3:c.118C>G MANE Select ENSP00000366307.2:p.Pro40Ala
ENST00000377103.2:c.118C>G ENSP00000366307.2:p.Pro40Ala
NM_000361.2:c.118C>G , LRG_168t1:c.118C>G NP_000352.1:p.Pro40Ala
NM_000361.3:c.118C>G MANE Select NP_000352.1:p.Pro40Ala
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Search 100 bp 3'