Canonical Allele Identifier: CA2754326534

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425992G>C , CM000664.2:g.219425992G>C	GRCh38
NC_000002.11:g.220290714G>C , CM000664.1:g.220290714G>C	GRCh37
NC_000002.10:g.219998958G>C	NCBI36
NG_008043.1:g.12616G>C , LRG_380:g.12616G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.889G>C
ENST00000683013.1:n.803G>C
ENST00000373960.4:c.*2G>C MANE Select	ENSP00000363071.3:n.*2G>C
ENST00000373960.3:c.*2G>C	ENSP00000363071.3:n.*2G>C
ENST00000483395.1:n.270G>C
NM_001927.3:c.*2G>C , LRG_380t1:c.*2G>C	NP_001918.3:n.*2G>C
NM_001927.4:c.*2G>C MANE Select	NP_001918.3:n.*2G>C
NM_001382708.1:c.*2G>C	NP_001369637.1:n.*2G>C
NM_001382709.1:c.*2G>C	NP_001369638.1:n.*2G>C
NM_001382710.1:c.*2G>C	NP_001369639.1:n.*2G>C
NM_001382711.1:c.*2G>C	NP_001369640.1:n.*2G>C
NM_001382712.1:c.1371+247G>C	NP_001369641.1:n.1371+247G>C
NM_001382713.1:c.*2G>C	NP_001369642.1:n.*2G>C