Canonical Allele Identifier: CA3969776
Community Standard Title: NM_013352.4(DSE):c.2184G>A (p.Lys728=)
Gene: DSE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116436652G>A , CM000668.2:g.116436652G>A GRCh38
NC_000006.11:g.116757815G>A , CM000668.1:g.116757815G>A GRCh37
NC_000006.10:g.116864508G>A NCBI36
NG_033266.1:g.161533G>A
NG_033266.3:g.187501G>A
NG_033266.4:g.187482G>A

Transcript Alleles

HGVS Amino-acid Change
NM_013352.4:c.2184G>A MANE Select NP_037484.1:p.Lys728=
ENST00000644252.3:c.2184G>A MANE Select ENSP00000494147.2:p.Lys728=
NM_001080976.1:c.2184G>A NP_001074445.1:p.Lys728=
NM_001080976.2:c.2184G>A NP_001074445.1:p.Lys728=
NM_001080976.3:c.2184G>A NP_001074445.1:p.Lys728=
NM_001322937.1:c.2184G>A NP_001309866.1:p.Lys728=
NM_001322937.2:c.2184G>A NP_001309866.1:p.Lys728=
NM_001322938.1:c.2184G>A NP_001309867.1:p.Lys728=
NM_001322938.2:c.2184G>A NP_001309867.1:p.Lys728=
NM_001322939.1:c.2241G>A NP_001309868.1:p.Lys747=
NM_001322939.2:c.2241G>A NP_001309868.1:p.Lys747=
NM_001322940.1:c.1623G>A NP_001309869.1:p.Lys541=
NM_001322940.2:c.1623G>A NP_001309869.1:p.Lys541=
NM_001322941.1:c.1623G>A NP_001309870.1:p.Lys541=
NM_001322941.2:c.1623G>A NP_001309870.1:p.Lys541=
NM_001322943.1:c.*1049G>A NP_001309872.1:n.*1049G>A
NM_001322943.2:c.*1049G>A NP_001309872.1:n.*1049G>A
NM_001322944.1:c.*1049G>A NP_001309873.1:n.*1049G>A
NM_001322944.2:c.*1049G>A NP_001309873.1:n.*1049G>A
NM_001374520.1:c.1185G>A NP_001361449.1:p.Lys395=
NM_001374521.1:c.1149G>A NP_001361450.1:p.Lys383=
NM_013352.2:c.2184G>A NP_037484.1:p.Lys728=
NM_013352.3:c.2184G>A NP_037484.1:p.Lys728=
NR_136524.1:n.2223G>A
NR_136524.2:n.2200G>A
ENST00000331677.7:c.2184G>A ENSP00000332151.2:p.Lys728=
ENST00000359564.2:c.2184G>A ENSP00000352567.2:p.Lys728=
ENST00000359564.3:c.*1049G>A ENSP00000352567.3:n.*1049G>A
ENST00000452085.7:c.2184G>A ENSP00000404049.2:p.Lys728=
ENST00000606712.1:n.2088G>A
ENST00000644499.1:c.766+5459G>A ENSP00000495266.1:n.766+5459G>A
ENST00000646710.1:c.*1049G>A ENSP00000495970.1:n.*1049G>A
XM_011535785.1:c.1149G>A XP_011534087.1:p.Lys383=
XM_017010795.1:c.2241G>A XP_016866284.1:p.Lys747=
XM_017010796.1:c.2184G>A XP_016866285.1:p.Lys728=
XM_017010797.1:c.*1049G>A XP_016866286.1:n.*1049G>A