Canonical Allele Identifier: CA3969758
Gene: DSE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116436550C>T , CM000668.2:g.116436550C>T GRCh38
NC_000006.11:g.116757713C>T , CM000668.1:g.116757713C>T GRCh37
NC_000006.10:g.116864406C>T NCBI36
NG_033266.1:g.161431C>T
NG_033266.3:g.187399C>T
NG_033266.4:g.187380C>T

Transcript Alleles

HGVS Amino-acid Change
NM_013352.4:c.2082C>T MANE Select NP_037484.1:p.Tyr694=
ENST00000644252.3:c.2082C>T MANE Select ENSP00000494147.2:p.Tyr694=
NM_001080976.1:c.2082C>T NP_001074445.1:p.Tyr694=
NM_001080976.2:c.2082C>T NP_001074445.1:p.Tyr694=
NM_001080976.3:c.2082C>T NP_001074445.1:p.Tyr694=
NM_001322937.1:c.2082C>T NP_001309866.1:p.Tyr694=
NM_001322937.2:c.2082C>T NP_001309866.1:p.Tyr694=
NM_001322938.1:c.2082C>T NP_001309867.1:p.Tyr694=
NM_001322938.2:c.2082C>T NP_001309867.1:p.Tyr694=
NM_001322939.1:c.2139C>T NP_001309868.1:p.Tyr713=
NM_001322939.2:c.2139C>T NP_001309868.1:p.Tyr713=
NM_001322940.1:c.1521C>T NP_001309869.1:p.Tyr507=
NM_001322940.2:c.1521C>T NP_001309869.1:p.Tyr507=
NM_001322941.1:c.1521C>T NP_001309870.1:p.Tyr507=
NM_001322941.2:c.1521C>T NP_001309870.1:p.Tyr507=
NM_001322943.1:c.*947C>T NP_001309872.1:n.*947C>T
NM_001322943.2:c.*947C>T NP_001309872.1:n.*947C>T
NM_001322944.1:c.*947C>T NP_001309873.1:n.*947C>T
NM_001322944.2:c.*947C>T NP_001309873.1:n.*947C>T
NM_001374520.1:c.1083C>T NP_001361449.1:p.Tyr361=
NM_001374521.1:c.1047C>T NP_001361450.1:p.Tyr349=
NM_013352.2:c.2082C>T NP_037484.1:p.Tyr694=
NM_013352.3:c.2082C>T NP_037484.1:p.Tyr694=
NR_136524.1:n.2121C>T
NR_136524.2:n.2098C>T
ENST00000331677.7:c.2082C>T ENSP00000332151.2:p.Tyr694=
ENST00000359564.2:c.2082C>T ENSP00000352567.2:p.Tyr694=
ENST00000359564.3:c.*947C>T ENSP00000352567.3:n.*947C>T
ENST00000452085.7:c.2082C>T ENSP00000404049.2:p.Tyr694=
ENST00000606712.1:n.1986C>T
ENST00000644499.1:c.766+5357C>T ENSP00000495266.1:n.766+5357C>T
ENST00000646710.1:c.*947C>T ENSP00000495970.1:n.*947C>T
XM_011535785.1:c.1047C>T XP_011534087.1:p.Tyr349=
XM_017010795.1:c.2139C>T XP_016866284.1:p.Tyr713=
XM_017010796.1:c.2082C>T XP_016866285.1:p.Tyr694=
XM_017010797.1:c.*947C>T XP_016866286.1:n.*947C>T