Canonical Allele Identifier: CA350694220
Gene: DES HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219421416T>G , CM000664.2:g.219421416T>G GRCh38
NC_000002.11:g.220286138T>G , CM000664.1:g.220286138T>G GRCh37
NC_000002.10:g.219994382T>G NCBI36
NG_008043.1:g.8040T>G , LRG_380:g.8040T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000477226.6:n.574T>G
ENST00000683013.1:n.488T>G
ENST00000373960.4:c.1100T>G MANE Select ENSP00000363071.3:p.Ile367Ser
ENST00000373960.3:c.1100T>G ENSP00000363071.3:p.Ile367Ser
ENST00000477226.5:n.572T>G
ENST00000492726.1:n.495T>G
NM_001927.3:c.1100T>G , LRG_380t1:c.1100T>G NP_001918.3:p.Ile367Ser
NM_001927.4:c.1100T>G MANE Select NP_001918.3:p.Ile367Ser
NM_001382708.1:c.1097T>G NP_001369637.1:p.Ile366Ser
NM_001382709.1:c.736-68T>G NP_001369638.1:n.736-68T>G
NM_001382710.1:c.1031T>G NP_001369639.1:p.Ile344Ser
NM_001382711.1:c.1079T>G NP_001369640.1:p.Ile360Ser
NM_001382712.1:c.1100T>G NP_001369641.1:p.Ile367Ser
NM_001382713.1:c.830T>G NP_001369642.1:p.Ile277Ser