Canonical Allele Identifier: CA1329211139

Gene: DES

Linked Data

• dbSNP Id: rs1954433114

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421140C>T , CM000664.2:g.219421140C>T	GRCh38
NC_000002.11:g.220285862C>T , CM000664.1:g.220285862C>T	GRCh37
NC_000002.10:g.219994106C>T	NCBI36
NG_008043.1:g.7764C>T , LRG_380:g.7764C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.497+187C>T
ENST00000683013.1:n.411+187C>T
ENST00000373960.4:c.1023+187C>T MANE Select	ENSP00000363071.3:n.1023+187C>T
ENST00000373960.3:c.1023+187C>T	ENSP00000363071.3:n.1023+187C>T
ENST00000477226.5:n.495+187C>T
ENST00000492726.1:n.418+187C>T
NM_001927.3:c.1023+187C>T , LRG_380t1:c.1023+187C>T	NP_001918.3:n.1023+187C>T
NM_001927.4:c.1023+187C>T MANE Select	NP_001918.3:n.1023+187C>T
NM_001382708.1:c.1020+187C>T	NP_001369637.1:n.1020+187C>T
NM_001382709.1:c.736-344C>T	NP_001369638.1:n.736-344C>T
NM_001382710.1:c.1023+187C>T	NP_001369639.1:n.1023+187C>T
NM_001382711.1:c.1023+187C>T	NP_001369640.1:n.1023+187C>T
NM_001382712.1:c.1023+187C>T	NP_001369641.1:n.1023+187C>T
NM_001382713.1:c.753+187C>T	NP_001369642.1:n.753+187C>T