Canonical Allele Identifier: CA2652141596
Gene: THBD HGNC NCBI

Linked Data

gnomAD v4: 20-23047738-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047738A>G , CM000682.2:g.23047738A>G GRCh38
NC_000020.10:g.23028375A>G , CM000682.1:g.23028375A>G GRCh37
NC_000020.9:g.22976375A>G NCBI36
NG_012027.1:g.6927T>C , LRG_168:g.6927T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.*39T>C MANE Select ENSP00000366307.2:n.*39T>C
ENST00000377103.2:c.*39T>C ENSP00000366307.2:n.*39T>C
NM_000361.2:c.*39T>C , LRG_168t1:c.*39T>C NP_000352.1:n.*39T>C
NM_000361.3:c.*39T>C MANE Select NP_000352.1:n.*39T>C
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