Canonical Allele Identifier: CA408408138
Gene: THBD HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.23029923C>G (hg19) chr20:g.23049286C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23049286C>G , CM000682.2:g.23049286C>G GRCh38
NC_000020.10:g.23029923C>G , CM000682.1:g.23029923C>G GRCh37
NC_000020.9:g.22977923C>G NCBI36
NG_012027.1:g.5379G>C , LRG_168:g.5379G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000377103.3:c.219G>C MANE Select ENSP00000366307.2:p.Leu73Phe
ENST00000377103.2:c.219G>C ENSP00000366307.2:p.Leu73Phe
NM_000361.2:c.219G>C , LRG_168t1:c.219G>C NP_000352.1:p.Leu73Phe
NM_000361.3:c.219G>C MANE Select NP_000352.1:p.Leu73Phe
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