Canonical Allele Identifier: CA350690834

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420516C>T , CM000664.2:g.219420516C>T	GRCh38
NC_000002.11:g.220285238C>T , CM000664.1:g.220285238C>T	GRCh37
NC_000002.10:g.219993482C>T	NCBI36
NG_008043.1:g.7140C>T , LRG_380:g.7140C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001927.4:c.757C>T MANE Select	NP_001918.3:p.Gln253Ter
ENST00000373960.4:c.757C>T MANE Select	ENSP00000363071.3:p.Gln253Ter
NM_001382708.1:c.754C>T	NP_001369637.1:p.Gln252Ter
NM_001382709.1:c.735+170C>T	NP_001369638.1:n.735+170C>T
NM_001382710.1:c.757C>T	NP_001369639.1:p.Gln253Ter
NM_001382711.1:c.757C>T	NP_001369640.1:p.Gln253Ter
NM_001382712.1:c.757C>T	NP_001369641.1:p.Gln253Ter
NM_001382713.1:c.496-9C>T	NP_001369642.1:n.496-9C>T
NM_001927.3:c.757C>T , LRG_380t1:c.757C>T	NP_001918.3:p.Gln253Ter
ENST00000373960.3:c.757C>T	ENSP00000363071.3:p.Gln253Ter
ENST00000477226.5:n.229C>T
ENST00000477226.6:n.231C>T
ENST00000492726.1:n.152C>T
ENST00000683013.1:n.145C>T