Canonical Allele Identifier: CA2125167
Gene: DES HGNC NCBI

Linked Data

dbSNP Id: rs753745620

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219420634C>G , CM000664.2:g.219420634C>G GRCh38
NC_000002.11:g.220285356C>G , CM000664.1:g.220285356C>G GRCh37
NC_000002.10:g.219993600C>G NCBI36
NG_008043.1:g.7258C>G , LRG_380:g.7258C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000477226.6:n.349C>G
ENST00000683013.1:n.263C>G
ENST00000373960.4:c.875C>G MANE Select ENSP00000363071.3:p.Ala292Gly
ENST00000373960.3:c.875C>G ENSP00000363071.3:p.Ala292Gly
ENST00000477226.5:n.347C>G
ENST00000492726.1:n.270C>G
NM_001927.3:c.875C>G , LRG_380t1:c.875C>G NP_001918.3:p.Ala292Gly
NM_001927.4:c.875C>G MANE Select NP_001918.3:p.Ala292Gly
NM_001382708.1:c.872C>G NP_001369637.1:p.Ala291Gly
NM_001382709.1:c.735+288C>G NP_001369638.1:n.735+288C>G
NM_001382710.1:c.875C>G NP_001369639.1:p.Ala292Gly
NM_001382711.1:c.875C>G NP_001369640.1:p.Ala292Gly
NM_001382712.1:c.875C>G NP_001369641.1:p.Ala292Gly
NM_001382713.1:c.605C>G NP_001369642.1:p.Ala202Gly