Canonical Allele Identifier: CA510161251
Gene: THBD HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.23030108G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23049471G>A , CM000682.2:g.23049471G>A GRCh38
NC_000020.10:g.23030108G>A , CM000682.1:g.23030108G>A GRCh37
NC_000020.9:g.22978108G>A NCBI36
NG_012027.1:g.5194C>T , LRG_168:g.5194C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.34C>T MANE Select ENSP00000366307.2:p.Leu12=
ENST00000377103.2:c.34C>T ENSP00000366307.2:p.Leu12=
NM_000361.2:c.34C>T , LRG_168t1:c.34C>T NP_000352.1:p.Leu12=
NM_000361.3:c.34C>T MANE Select NP_000352.1:p.Leu12=
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