Canonical Allele Identifier: CA408408134
Gene: THBD HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.23029921A>T (hg19) chr20:g.23049284A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23049284A>T , CM000682.2:g.23049284A>T GRCh38
NC_000020.10:g.23029921A>T , CM000682.1:g.23029921A>T GRCh37
NC_000020.9:g.22977921A>T NCBI36
NG_012027.1:g.5381T>A , LRG_168:g.5381T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000377103.3:c.221T>A MANE Select ENSP00000366307.2:p.Leu74Gln
ENST00000377103.2:c.221T>A ENSP00000366307.2:p.Leu74Gln
NM_000361.2:c.221T>A , LRG_168t1:c.221T>A NP_000352.1:p.Leu74Gln
NM_000361.3:c.221T>A MANE Select NP_000352.1:p.Leu74Gln
Search 100 bp 5'
Search 100 bp 3'