Canonical Allele Identifier: CA2701593651

Gene: DES

Linked Data

• dbSNP Id: rs2125168447

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421138A>G , CM000664.2:g.219421138A>G	GRCh38
NC_000002.11:g.220285860A>G , CM000664.1:g.220285860A>G	GRCh37
NC_000002.10:g.219994104A>G	NCBI36
NG_008043.1:g.7762A>G , LRG_380:g.7762A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.497+185A>G
ENST00000683013.1:n.411+185A>G
ENST00000373960.4:c.1023+185A>G MANE Select	ENSP00000363071.3:n.1023+185A>G
ENST00000373960.3:c.1023+185A>G	ENSP00000363071.3:n.1023+185A>G
ENST00000477226.5:n.495+185A>G
ENST00000492726.1:n.418+185A>G
NM_001927.3:c.1023+185A>G , LRG_380t1:c.1023+185A>G	NP_001918.3:n.1023+185A>G
NM_001927.4:c.1023+185A>G MANE Select	NP_001918.3:n.1023+185A>G
NM_001382708.1:c.1020+185A>G	NP_001369637.1:n.1020+185A>G
NM_001382709.1:c.736-346A>G	NP_001369638.1:n.736-346A>G
NM_001382710.1:c.1023+185A>G	NP_001369639.1:n.1023+185A>G
NM_001382711.1:c.1023+185A>G	NP_001369640.1:n.1023+185A>G
NM_001382712.1:c.1023+185A>G	NP_001369641.1:n.1023+185A>G
NM_001382713.1:c.753+185A>G	NP_001369642.1:n.753+185A>G