Canonical Allele Identifier: CA510160454
Gene: THBD HGNC NCBI

Linked Data

gnomAD v4: 20-23047822-T-C
MyVariant Identifiers: chr20:g.23028459T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047822T>C , CM000682.2:g.23047822T>C GRCh38
NC_000020.10:g.23028459T>C , CM000682.1:g.23028459T>C GRCh37
NC_000020.9:g.22976459T>C NCBI36
NG_012027.1:g.6843A>G , LRG_168:g.6843A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1683A>G MANE Select ENSP00000366307.2:p.Val561=
ENST00000377103.2:c.1683A>G ENSP00000366307.2:p.Val561=
NM_000361.2:c.1683A>G , LRG_168t1:c.1683A>G NP_000352.1:p.Val561=
NM_000361.3:c.1683A>G MANE Select NP_000352.1:p.Val561=
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