Canonical Allele Identifier: CA2739713799
Gene: THBD HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23049557A>T , CM000682.2:g.23049557A>T GRCh38
NC_000020.10:g.23030194A>T , CM000682.1:g.23030194A>T GRCh37
NC_000020.9:g.22978194A>T NCBI36
NG_012027.1:g.5108T>A , LRG_168:g.5108T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.-53T>A MANE Select ENSP00000366307.2:n.-53T>A
ENST00000377103.2:c.-53T>A ENSP00000366307.2:n.-53T>A
NM_000361.2:c.-53T>A , LRG_168t1:c.-53T>A NP_000352.1:n.-53T>A
NM_000361.3:c.-53T>A MANE Select NP_000352.1:n.-53T>A
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