Canonical Allele Identifier: CA2573135383

Gene: DES

Linked Data

• ClinVar Variation Id: 1627958
• ClinVar RCV Id: RCV002123299
• dbSNP Id: rs774435644

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420356G>T , CM000664.2:g.219420356G>T	GRCh38
NC_000002.11:g.220285078G>T , CM000664.1:g.220285078G>T	GRCh37
NC_000002.10:g.219993322G>T	NCBI36
NG_008043.1:g.6980G>T , LRG_380:g.6980G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.209+10G>T
ENST00000683013.1:n.123+10G>T
ENST00000373960.4:c.735+10G>T MANE Select	ENSP00000363071.3:n.735+10G>T
ENST00000373960.3:c.735+10G>T	ENSP00000363071.3:n.735+10G>T
ENST00000477226.5:n.207+10G>T
ENST00000492726.1:n.130+10G>T
NM_001927.3:c.735+10G>T , LRG_380t1:c.735+10G>T	NP_001918.3:n.735+10G>T
NM_001927.4:c.735+10G>T MANE Select	NP_001918.3:n.735+10G>T
NM_001382708.1:c.732+10G>T	NP_001369637.1:n.732+10G>T
NM_001382709.1:c.735+10G>T	NP_001369638.1:n.735+10G>T
NM_001382710.1:c.735+10G>T	NP_001369639.1:n.735+10G>T
NM_001382711.1:c.735+10G>T	NP_001369640.1:n.735+10G>T
NM_001382712.1:c.735+10G>T	NP_001369641.1:n.735+10G>T
NM_001382713.1:c.496-169G>T	NP_001369642.1:n.496-169G>T