Canonical Allele Identifier: CA3969659
Community Standard Title: NM_013352.4(DSE):c.1381G>A (p.Ala461Thr)
Gene: DSE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116435849G>A , CM000668.2:g.116435849G>A GRCh38
NC_000006.11:g.116757012G>A , CM000668.1:g.116757012G>A GRCh37
NC_000006.10:g.116863705G>A NCBI36
NG_033266.1:g.160730G>A
NG_033266.3:g.186698G>A
NG_033266.4:g.186679G>A

Transcript Alleles

HGVS Amino-acid Change
NM_013352.4:c.1381G>A MANE Select NP_037484.1:p.Ala461Thr
ENST00000644252.3:c.1381G>A MANE Select ENSP00000494147.2:p.Ala461Thr
NM_001080976.1:c.1381G>A NP_001074445.1:p.Ala461Thr
NM_001080976.2:c.1381G>A NP_001074445.1:p.Ala461Thr
NM_001080976.3:c.1381G>A NP_001074445.1:p.Ala461Thr
NM_001322937.1:c.1381G>A NP_001309866.1:p.Ala461Thr
NM_001322937.2:c.1381G>A NP_001309866.1:p.Ala461Thr
NM_001322938.1:c.1381G>A NP_001309867.1:p.Ala461Thr
NM_001322938.2:c.1381G>A NP_001309867.1:p.Ala461Thr
NM_001322939.1:c.1438G>A NP_001309868.1:p.Ala480Thr
NM_001322939.2:c.1438G>A NP_001309868.1:p.Ala480Thr
NM_001322940.1:c.820G>A NP_001309869.1:p.Ala274Thr
NM_001322940.2:c.820G>A NP_001309869.1:p.Ala274Thr
NM_001322941.1:c.820G>A NP_001309870.1:p.Ala274Thr
NM_001322941.2:c.820G>A NP_001309870.1:p.Ala274Thr
NM_001322943.1:c.*246G>A NP_001309872.1:n.*246G>A
NM_001322943.2:c.*246G>A NP_001309872.1:n.*246G>A
NM_001322944.1:c.*246G>A NP_001309873.1:n.*246G>A
NM_001322944.2:c.*246G>A NP_001309873.1:n.*246G>A
NM_001374520.1:c.382G>A NP_001361449.1:p.Ala128Thr
NM_001374521.1:c.346G>A NP_001361450.1:p.Ala116Thr
NM_013352.2:c.1381G>A NP_037484.1:p.Ala461Thr
NM_013352.3:c.1381G>A NP_037484.1:p.Ala461Thr
NR_136524.1:n.1420G>A
NR_136524.2:n.1397G>A
ENST00000331677.7:c.1381G>A ENSP00000332151.2:p.Ala461Thr
ENST00000359564.2:c.1381G>A ENSP00000352567.2:p.Ala461Thr
ENST00000359564.3:c.*246G>A ENSP00000352567.3:n.*246G>A
ENST00000452085.7:c.1381G>A ENSP00000404049.2:p.Ala461Thr
ENST00000606712.1:n.1285G>A
ENST00000644499.1:c.766+4656G>A ENSP00000495266.1:n.766+4656G>A
ENST00000646710.1:c.*246G>A ENSP00000495970.1:n.*246G>A
XM_011535785.1:c.346G>A XP_011534087.1:p.Ala116Thr
XM_017010795.1:c.1438G>A XP_016866284.1:p.Ala480Thr
XM_017010796.1:c.1381G>A XP_016866285.1:p.Ala461Thr
XM_017010797.1:c.*246G>A XP_016866286.1:n.*246G>A