Canonical Allele Identifier: CA764964830
Gene: DES HGNC NCBI

Linked Data

dbSNP Id: rs1342322314

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219419186T>C , CM000664.2:g.219419186T>C GRCh38
NC_000002.11:g.220283908T>C , CM000664.1:g.220283908T>C GRCh37
NC_000002.10:g.219992152T>C NCBI36
NG_008043.1:g.5810T>C , LRG_380:g.5810T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373960.4:c.578+146T>C MANE Select ENSP00000363071.3:n.578+146T>C
ENST00000373960.3:c.578+146T>C ENSP00000363071.3:n.578+146T>C
NM_001927.3:c.578+146T>C , LRG_380t1:c.578+146T>C NP_001918.3:n.578+146T>C
NM_001927.4:c.578+146T>C MANE Select NP_001918.3:n.578+146T>C
NM_001382708.1:c.578+146T>C NP_001369637.1:n.578+146T>C
NM_001382709.1:c.578+146T>C NP_001369638.1:n.578+146T>C
NM_001382710.1:c.578+146T>C NP_001369639.1:n.578+146T>C
NM_001382711.1:c.578+146T>C NP_001369640.1:n.578+146T>C
NM_001382712.1:c.578+146T>C NP_001369641.1:n.578+146T>C
NM_001382713.1:c.495+229T>C NP_001369642.1:n.495+229T>C