Canonical Allele Identifier: CA2838288694
Gene: DES HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219418393T>A , CM000664.2:g.219418393T>A GRCh38
NC_000002.11:g.220283115T>A , CM000664.1:g.220283115T>A GRCh37
NC_000002.10:g.219991359T>A NCBI36
NG_008043.1:g.5017T>A , LRG_380:g.5017T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373960.4:c.-70T>A MANE Select ENSP00000363071.3:n.-70T>A
ENST00000373960.3:c.-70T>A ENSP00000363071.3:n.-70T>A
NM_001927.3:c.-70T>A , LRG_380t1:c.-70T>A NP_001918.3:n.-70T>A
NM_001927.4:c.-70T>A MANE Select NP_001918.3:n.-70T>A
NM_001382708.1:c.-70T>A NP_001369637.1:n.-70T>A
NM_001382709.1:c.-70T>A NP_001369638.1:n.-70T>A
NM_001382710.1:c.-70T>A NP_001369639.1:n.-70T>A
NM_001382711.1:c.-70T>A NP_001369640.1:n.-70T>A
NM_001382712.1:c.-70T>A NP_001369641.1:n.-70T>A
NM_001382713.1:c.-70T>A NP_001369642.1:n.-70T>A
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