Canonical Allele Identifier: CA2663248837

Gene: DES

Linked Data

• gnomAD v4: 2-219420084-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420084G>C , CM000664.2:g.219420084G>C	GRCh38
NC_000002.11:g.220284806G>C , CM000664.1:g.220284806G>C	GRCh37
NC_000002.10:g.219993050G>C	NCBI36
NG_008043.1:g.6708G>C , LRG_380:g.6708G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.42G>C
ENST00000373960.4:c.579-11G>C MANE Select	ENSP00000363071.3:n.579-11G>C
ENST00000373960.3:c.579-11G>C	ENSP00000363071.3:n.579-11G>C
ENST00000477226.5:n.40G>C
NM_001927.3:c.579-11G>C , LRG_380t1:c.579-11G>C	NP_001918.3:n.579-11G>C
NM_001927.4:c.579-11G>C MANE Select	NP_001918.3:n.579-11G>C
NM_001382708.1:c.579-11G>C	NP_001369637.1:n.579-11G>C
NM_001382709.1:c.579-11G>C	NP_001369638.1:n.579-11G>C
NM_001382710.1:c.579-11G>C	NP_001369639.1:n.579-11G>C
NM_001382711.1:c.579-11G>C	NP_001369640.1:n.579-11G>C
NM_001382712.1:c.579-11G>C	NP_001369641.1:n.579-11G>C
NM_001382713.1:c.496-441G>C	NP_001369642.1:n.496-441G>C