Canonical Allele Identifier: CA3969742
Community Standard Title: NM_013352.4(DSE):c.2005A>G (p.Ile669Val)
Gene: DSE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116436473A>G , CM000668.2:g.116436473A>G GRCh38
NC_000006.11:g.116757636A>G , CM000668.1:g.116757636A>G GRCh37
NC_000006.10:g.116864329A>G NCBI36
NG_033266.1:g.161354A>G
NG_033266.3:g.187322A>G
NG_033266.4:g.187303A>G

Transcript Alleles

HGVS Amino-acid Change
NM_013352.4:c.2005A>G MANE Select NP_037484.1:p.Ile669Val
ENST00000644252.3:c.2005A>G MANE Select ENSP00000494147.2:p.Ile669Val
NM_001080976.1:c.2005A>G NP_001074445.1:p.Ile669Val
NM_001080976.2:c.2005A>G NP_001074445.1:p.Ile669Val
NM_001080976.3:c.2005A>G NP_001074445.1:p.Ile669Val
NM_001322937.1:c.2005A>G NP_001309866.1:p.Ile669Val
NM_001322937.2:c.2005A>G NP_001309866.1:p.Ile669Val
NM_001322938.1:c.2005A>G NP_001309867.1:p.Ile669Val
NM_001322938.2:c.2005A>G NP_001309867.1:p.Ile669Val
NM_001322939.1:c.2062A>G NP_001309868.1:p.Ile688Val
NM_001322939.2:c.2062A>G NP_001309868.1:p.Ile688Val
NM_001322940.1:c.1444A>G NP_001309869.1:p.Ile482Val
NM_001322940.2:c.1444A>G NP_001309869.1:p.Ile482Val
NM_001322941.1:c.1444A>G NP_001309870.1:p.Ile482Val
NM_001322941.2:c.1444A>G NP_001309870.1:p.Ile482Val
NM_001322943.1:c.*870A>G NP_001309872.1:n.*870A>G
NM_001322943.2:c.*870A>G NP_001309872.1:n.*870A>G
NM_001322944.1:c.*870A>G NP_001309873.1:n.*870A>G
NM_001322944.2:c.*870A>G NP_001309873.1:n.*870A>G
NM_001374520.1:c.1006A>G NP_001361449.1:p.Ile336Val
NM_001374521.1:c.970A>G NP_001361450.1:p.Ile324Val
NM_013352.2:c.2005A>G NP_037484.1:p.Ile669Val
NM_013352.3:c.2005A>G NP_037484.1:p.Ile669Val
NR_136524.1:n.2044A>G
NR_136524.2:n.2021A>G
ENST00000331677.7:c.2005A>G ENSP00000332151.2:p.Ile669Val
ENST00000359564.2:c.2005A>G ENSP00000352567.2:p.Ile669Val
ENST00000359564.3:c.*870A>G ENSP00000352567.3:n.*870A>G
ENST00000452085.7:c.2005A>G ENSP00000404049.2:p.Ile669Val
ENST00000606712.1:n.1909A>G
ENST00000644499.1:c.766+5280A>G ENSP00000495266.1:n.766+5280A>G
ENST00000646710.1:c.*870A>G ENSP00000495970.1:n.*870A>G
XM_011535785.1:c.970A>G XP_011534087.1:p.Ile324Val
XM_017010795.1:c.2062A>G XP_016866284.1:p.Ile688Val
XM_017010796.1:c.2005A>G XP_016866285.1:p.Ile669Val
XM_017010797.1:c.*870A>G XP_016866286.1:n.*870A>G