Canonical Allele Identifier: CA2125306

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425737G>A , CM000664.2:g.219425737G>A	GRCh38
NC_000002.11:g.220290459G>A , CM000664.1:g.220290459G>A	GRCh37
NC_000002.10:g.219998703G>A	NCBI36
NG_008043.1:g.12361G>A , LRG_380:g.12361G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001927.4:c.1363G>A MANE Select	NP_001918.3:p.Asp455Asn
ENST00000373960.4:c.1363G>A MANE Select	ENSP00000363071.3:p.Asp455Asn
NM_001382708.1:c.1360G>A	NP_001369637.1:p.Asp454Asn
NM_001382709.1:c.931G>A	NP_001369638.1:p.Asp311Asn
NM_001382710.1:c.1294G>A	NP_001369639.1:p.Asp432Asn
NM_001382711.1:c.1342G>A	NP_001369640.1:p.Asp448Asn
NM_001382712.1:c.1363G>A	NP_001369641.1:p.Asp455Asn
NM_001382713.1:c.1093G>A	NP_001369642.1:p.Asp365Asn
NM_001927.3:c.1363G>A , LRG_380t1:c.1363G>A	NP_001918.3:p.Asp455Asn
ENST00000373960.3:c.1363G>A	ENSP00000363071.3:p.Asp455Asn
ENST00000477226.6:n.837G>A
ENST00000483395.1:n.218G>A
ENST00000683013.1:n.751G>A