Canonical Allele Identifier: CA510160610
Gene: THBD HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.23028503T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047866T>G , CM000682.2:g.23047866T>G GRCh38
NC_000020.10:g.23028503T>G , CM000682.1:g.23028503T>G GRCh37
NC_000020.9:g.22976503T>G NCBI36
NG_012027.1:g.6799A>C , LRG_168:g.6799A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1639A>C MANE Select ENSP00000366307.2:p.Arg547=
ENST00000377103.2:c.1639A>C ENSP00000366307.2:p.Arg547=
NM_000361.2:c.1639A>C , LRG_168t1:c.1639A>C NP_000352.1:p.Arg547=
NM_000361.3:c.1639A>C MANE Select NP_000352.1:p.Arg547=
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