Canonical Allele Identifier: CA2577252558
Gene: DES HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219420064A>G , CM000664.2:g.219420064A>G GRCh38
NC_000002.11:g.220284786A>G , CM000664.1:g.220284786A>G GRCh37
NC_000002.10:g.219993030A>G NCBI36
NG_008043.1:g.6688A>G , LRG_380:g.6688A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000477226.6:n.22A>G
ENST00000373960.4:c.579-31A>G MANE Select ENSP00000363071.3:n.579-31A>G
ENST00000373960.3:c.579-31A>G ENSP00000363071.3:n.579-31A>G
ENST00000477226.5:n.20A>G
NM_001927.3:c.579-31A>G , LRG_380t1:c.579-31A>G NP_001918.3:n.579-31A>G
NM_001927.4:c.579-31A>G MANE Select NP_001918.3:n.579-31A>G
NM_001382708.1:c.579-31A>G NP_001369637.1:n.579-31A>G
NM_001382709.1:c.579-31A>G NP_001369638.1:n.579-31A>G
NM_001382710.1:c.579-31A>G NP_001369639.1:n.579-31A>G
NM_001382711.1:c.579-31A>G NP_001369640.1:n.579-31A>G
NM_001382712.1:c.579-31A>G NP_001369641.1:n.579-31A>G
NM_001382713.1:c.496-461A>G NP_001369642.1:n.496-461A>G