Canonical Allele Identifier: CA1329209762
Gene: DES HGNC NCBI

Linked Data

dbSNP Id: rs1954356012
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219418420C>G , CM000664.2:g.219418420C>G GRCh38
NC_000002.11:g.220283142C>G , CM000664.1:g.220283142C>G GRCh37
NC_000002.10:g.219991386C>G NCBI36
NG_008043.1:g.5044C>G , LRG_380:g.5044C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000373960.4:c.-43C>G MANE Select ENSP00000363071.3:n.-43C>G
ENST00000373960.3:c.-43C>G ENSP00000363071.3:n.-43C>G
NM_001927.3:c.-43C>G , LRG_380t1:c.-43C>G NP_001918.3:n.-43C>G
NM_001927.4:c.-43C>G MANE Select NP_001918.3:n.-43C>G
NM_001382708.1:c.-43C>G NP_001369637.1:n.-43C>G
NM_001382709.1:c.-43C>G NP_001369638.1:n.-43C>G
NM_001382710.1:c.-43C>G NP_001369639.1:n.-43C>G
NM_001382711.1:c.-43C>G NP_001369640.1:n.-43C>G
NM_001382712.1:c.-43C>G NP_001369641.1:n.-43C>G
NM_001382713.1:c.-43C>G NP_001369642.1:n.-43C>G
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