Canonical Allele Identifier: CA350695004

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421530A>C , CM000664.2:g.219421530A>C	GRCh38
NC_000002.11:g.220286252A>C , CM000664.1:g.220286252A>C	GRCh37
NC_000002.10:g.219994496A>C	NCBI36
NG_008043.1:g.8154A>C , LRG_380:g.8154A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001927.4:c.1214A>C MANE Select	NP_001918.3:p.Tyr405Ser
ENST00000373960.4:c.1214A>C MANE Select	ENSP00000363071.3:p.Tyr405Ser
NM_001382708.1:c.1211A>C	NP_001369637.1:p.Tyr404Ser
NM_001382709.1:c.782A>C	NP_001369638.1:p.Tyr261Ser
NM_001382710.1:c.1145A>C	NP_001369639.1:p.Tyr382Ser
NM_001382711.1:c.1193A>C	NP_001369640.1:p.Tyr398Ser
NM_001382712.1:c.1214A>C	NP_001369641.1:p.Tyr405Ser
NM_001382713.1:c.944A>C	NP_001369642.1:p.Tyr315Ser
NM_001927.3:c.1214A>C , LRG_380t1:c.1214A>C	NP_001918.3:p.Tyr405Ser
ENST00000373960.3:c.1214A>C	ENSP00000363071.3:p.Tyr405Ser
ENST00000477226.5:n.686A>C
ENST00000477226.6:n.688A>C
ENST00000492726.1:n.609A>C
ENST00000683013.1:n.602A>C