Canonical Allele Identifier: CA365393709

Gene: DSE

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116431174G>C , CM000668.2:g.116431174G>C	GRCh38
NC_000006.11:g.116752337G>C , CM000668.1:g.116752337G>C	GRCh37
NC_000006.10:g.116859030G>C	NCBI36
NG_033266.1:g.156055G>C
NG_033266.3:g.182023G>C
NG_033266.4:g.182004G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_013352.4:c.891G>C MANE Select	NP_037484.1:p.Met297Ile
ENST00000644252.3:c.891G>C MANE Select	ENSP00000494147.2:p.Met297Ile
NM_001080976.1:c.891G>C	NP_001074445.1:p.Met297Ile
NM_001080976.2:c.891G>C	NP_001074445.1:p.Met297Ile
NM_001080976.3:c.891G>C	NP_001074445.1:p.Met297Ile
NM_001322937.1:c.891G>C	NP_001309866.1:p.Met297Ile
NM_001322937.2:c.891G>C	NP_001309866.1:p.Met297Ile
NM_001322938.1:c.891G>C	NP_001309867.1:p.Met297Ile
NM_001322938.2:c.891G>C	NP_001309867.1:p.Met297Ile
NM_001322939.1:c.948G>C	NP_001309868.1:p.Met316Ile
NM_001322939.2:c.948G>C	NP_001309868.1:p.Met316Ile
NM_001322940.1:c.330G>C	NP_001309869.1:p.Met110Ile
NM_001322940.2:c.330G>C	NP_001309869.1:p.Met110Ile
NM_001322941.1:c.330G>C	NP_001309870.1:p.Met110Ile
NM_001322941.2:c.330G>C	NP_001309870.1:p.Met110Ile
NM_001322943.1:c.670+4347G>C	NP_001309872.1:n.670+4347G>C
NM_001322943.2:c.670+4347G>C	NP_001309872.1:n.670+4347G>C
NM_001322944.1:c.891G>C	NP_001309873.1:p.Met297Ile
NM_001322944.2:c.891G>C	NP_001309873.1:p.Met297Ile
NM_001374520.1:c.-90+117G>C	NP_001361449.1:n.-90+117G>C
NM_001374521.1:c.83+4347G>C	NP_001361450.1:n.83+4347G>C
NM_001374522.1:c.891G>C	NP_001361451.1:p.Met297Ile
NM_013352.2:c.891G>C	NP_037484.1:p.Met297Ile
NM_013352.3:c.891G>C	NP_037484.1:p.Met297Ile
NR_136524.1:n.1138G>C
NR_136524.2:n.1115G>C
ENST00000331677.7:c.891G>C	ENSP00000332151.2:p.Met297Ile
ENST00000359564.2:c.891G>C	ENSP00000352567.2:p.Met297Ile
ENST00000359564.3:c.891G>C	ENSP00000352567.3:p.Met297Ile
ENST00000452085.7:c.891G>C	ENSP00000404049.2:p.Met297Ile
ENST00000644499.1:c.747G>C	ENSP00000495266.1:p.Met249Ile
ENST00000646710.1:c.670+4347G>C	ENSP00000495970.1:n.670+4347G>C
ENST00000647244.1:c.670+4347G>C	ENSP00000495184.1:n.670+4347G>C
XM_011535785.1:c.83+4347G>C	XP_011534087.1:n.83+4347G>C
XM_017010795.1:c.948G>C	XP_016866284.1:p.Met316Ile
XM_017010796.1:c.891G>C	XP_016866285.1:p.Met297Ile
XM_017010797.1:c.948G>C	XP_016866286.1:p.Met316Ile