Canonical Allele Identifier: CA2843661273

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420416G>T , CM000664.2:g.219420416G>T	GRCh38
NC_000002.11:g.220285138G>T , CM000664.1:g.220285138G>T	GRCh37
NC_000002.10:g.219993382G>T	NCBI36
NG_008043.1:g.7040G>T , LRG_380:g.7040G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.209+70G>T
ENST00000683013.1:n.123+70G>T
ENST00000373960.4:c.735+70G>T MANE Select	ENSP00000363071.3:n.735+70G>T
ENST00000373960.3:c.735+70G>T	ENSP00000363071.3:n.735+70G>T
ENST00000477226.5:n.207+70G>T
ENST00000492726.1:n.130+70G>T
NM_001927.3:c.735+70G>T , LRG_380t1:c.735+70G>T	NP_001918.3:n.735+70G>T
NM_001927.4:c.735+70G>T MANE Select	NP_001918.3:n.735+70G>T
NM_001382708.1:c.732+70G>T	NP_001369637.1:n.732+70G>T
NM_001382709.1:c.735+70G>T	NP_001369638.1:n.735+70G>T
NM_001382710.1:c.735+70G>T	NP_001369639.1:n.735+70G>T
NM_001382711.1:c.735+70G>T	NP_001369640.1:n.735+70G>T
NM_001382712.1:c.735+70G>T	NP_001369641.1:n.735+70G>T
NM_001382713.1:c.496-109G>T	NP_001369642.1:n.496-109G>T