Canonical Allele Identifier: CA2652140774
Gene: THBD HGNC NCBI

Linked Data

gnomAD v4: 20-23046233-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23046233G>T , CM000682.2:g.23046233G>T GRCh38
NC_000020.10:g.23026870G>T , CM000682.1:g.23026870G>T GRCh37
NC_000020.9:g.22974870G>T NCBI36
NG_012027.1:g.8432C>A , LRG_168:g.8432C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000377103.3:c.*1544C>A MANE Select ENSP00000366307.2:n.*1544C>A
ENST00000377103.2:c.*1544C>A ENSP00000366307.2:n.*1544C>A
NM_000361.2:c.*1544C>A , LRG_168t1:c.*1544C>A NP_000352.1:n.*1544C>A
NM_000361.3:c.*1544C>A MANE Select NP_000352.1:n.*1544C>A
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