Canonical Allele Identifier: CA16605445
Community Standard Title: NM_013352.4(DSE):c.2547C>T (p.Pro849=)
Gene: DSE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116437015C>T , CM000668.2:g.116437015C>T GRCh38
NC_000006.11:g.116758178C>T , CM000668.1:g.116758178C>T GRCh37
NC_000006.10:g.116864871C>T NCBI36
NG_033266.1:g.161896C>T
NG_033266.3:g.187864C>T
NG_033266.4:g.187845C>T

Transcript Alleles

HGVS Amino-acid Change
NM_013352.4:c.2547C>T MANE Select NP_037484.1:p.Pro849=
ENST00000644252.3:c.2547C>T MANE Select ENSP00000494147.2:p.Pro849=
NM_001080976.1:c.2547C>T NP_001074445.1:p.Pro849=
NM_001080976.2:c.2547C>T NP_001074445.1:p.Pro849=
NM_001080976.3:c.2547C>T NP_001074445.1:p.Pro849=
NM_001322937.1:c.2547C>T NP_001309866.1:p.Pro849=
NM_001322937.2:c.2547C>T NP_001309866.1:p.Pro849=
NM_001322938.1:c.2547C>T NP_001309867.1:p.Pro849=
NM_001322938.2:c.2547C>T NP_001309867.1:p.Pro849=
NM_001322939.1:c.2604C>T NP_001309868.1:p.Pro868=
NM_001322939.2:c.2604C>T NP_001309868.1:p.Pro868=
NM_001322940.1:c.1986C>T NP_001309869.1:p.Pro662=
NM_001322940.2:c.1986C>T NP_001309869.1:p.Pro662=
NM_001322941.1:c.1986C>T NP_001309870.1:p.Pro662=
NM_001322941.2:c.1986C>T NP_001309870.1:p.Pro662=
NM_001322943.1:c.*1412C>T NP_001309872.1:n.*1412C>T
NM_001322943.2:c.*1412C>T NP_001309872.1:n.*1412C>T
NM_001322944.1:c.*1412C>T NP_001309873.1:n.*1412C>T
NM_001322944.2:c.*1412C>T NP_001309873.1:n.*1412C>T
NM_001374520.1:c.1548C>T NP_001361449.1:p.Pro516=
NM_001374521.1:c.1512C>T NP_001361450.1:p.Pro504=
NM_013352.2:c.2547C>T NP_037484.1:p.Pro849=
NM_013352.3:c.2547C>T NP_037484.1:p.Pro849=
NR_136524.1:n.2586C>T
NR_136524.2:n.2563C>T
ENST00000331677.7:c.2547C>T ENSP00000332151.2:p.Pro849=
ENST00000359564.2:c.2547C>T ENSP00000352567.2:p.Pro849=
ENST00000359564.3:c.*1412C>T ENSP00000352567.3:n.*1412C>T
ENST00000452085.7:c.2547C>T ENSP00000404049.2:p.Pro849=
ENST00000606712.1:n.2451C>T
ENST00000644499.1:c.766+5822C>T ENSP00000495266.1:n.766+5822C>T
ENST00000646710.1:c.*1412C>T ENSP00000495970.1:n.*1412C>T
XM_011535785.1:c.1512C>T XP_011534087.1:p.Pro504=
XM_017010795.1:c.2604C>T XP_016866284.1:p.Pro868=
XM_017010796.1:c.2547C>T XP_016866285.1:p.Pro849=
XM_017010797.1:c.*1412C>T XP_016866286.1:n.*1412C>T