Canonical Allele Identifier: CA2739713803
Gene: THBD HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23049564T>C , CM000682.2:g.23049564T>C GRCh38
NC_000020.10:g.23030201T>C , CM000682.1:g.23030201T>C GRCh37
NC_000020.9:g.22978201T>C NCBI36
NG_012027.1:g.5101A>G , LRG_168:g.5101A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.-60A>G MANE Select ENSP00000366307.2:n.-60A>G
ENST00000377103.2:c.-60A>G ENSP00000366307.2:n.-60A>G
NM_000361.2:c.-60A>G , LRG_168t1:c.-60A>G NP_000352.1:n.-60A>G
NM_000361.3:c.-60A>G MANE Select NP_000352.1:n.-60A>G
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