Canonical Allele Identifier: CA408408128
Gene: THBD HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.23029918A>G (hg19) chr20:g.23049281A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23049281A>G , CM000682.2:g.23049281A>G GRCh38
NC_000020.10:g.23029918A>G , CM000682.1:g.23029918A>G GRCh37
NC_000020.9:g.22977918A>G NCBI36
NG_012027.1:g.5384T>C , LRG_168:g.5384T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000377103.3:c.224T>C MANE Select ENSP00000366307.2:p.Leu75Pro
ENST00000377103.2:c.224T>C ENSP00000366307.2:p.Leu75Pro
NM_000361.2:c.224T>C , LRG_168t1:c.224T>C NP_000352.1:p.Leu75Pro
NM_000361.3:c.224T>C MANE Select NP_000352.1:p.Leu75Pro
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