Canonical Allele Identifier: CA451901790

Gene: DSE

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116435752T>C , CM000668.2:g.116435752T>C	GRCh38
NC_000006.11:g.116756915T>C , CM000668.1:g.116756915T>C	GRCh37
NC_000006.10:g.116863608T>C	NCBI36
NG_033266.1:g.160633T>C
NG_033266.3:g.186601T>C
NG_033266.4:g.186582T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_013352.4:c.1284T>C MANE Select	NP_037484.1:p.Tyr428=
ENST00000644252.3:c.1284T>C MANE Select	ENSP00000494147.2:p.Tyr428=
NM_001080976.1:c.1284T>C	NP_001074445.1:p.Tyr428=
NM_001080976.2:c.1284T>C	NP_001074445.1:p.Tyr428=
NM_001080976.3:c.1284T>C	NP_001074445.1:p.Tyr428=
NM_001322937.1:c.1284T>C	NP_001309866.1:p.Tyr428=
NM_001322937.2:c.1284T>C	NP_001309866.1:p.Tyr428=
NM_001322938.1:c.1284T>C	NP_001309867.1:p.Tyr428=
NM_001322938.2:c.1284T>C	NP_001309867.1:p.Tyr428=
NM_001322939.1:c.1341T>C	NP_001309868.1:p.Tyr447=
NM_001322939.2:c.1341T>C	NP_001309868.1:p.Tyr447=
NM_001322940.1:c.723T>C	NP_001309869.1:p.Tyr241=
NM_001322940.2:c.723T>C	NP_001309869.1:p.Tyr241=
NM_001322941.1:c.723T>C	NP_001309870.1:p.Tyr241=
NM_001322941.2:c.723T>C	NP_001309870.1:p.Tyr241=
NM_001322943.1:c.*149T>C	NP_001309872.1:n.*149T>C
NM_001322943.2:c.*149T>C	NP_001309872.1:n.*149T>C
NM_001322944.1:c.*149T>C	NP_001309873.1:n.*149T>C
NM_001322944.2:c.*149T>C	NP_001309873.1:n.*149T>C
NM_001374520.1:c.285T>C	NP_001361449.1:p.Tyr95=
NM_001374521.1:c.249T>C	NP_001361450.1:p.Tyr83=
NM_013352.2:c.1284T>C	NP_037484.1:p.Tyr428=
NM_013352.3:c.1284T>C	NP_037484.1:p.Tyr428=
NR_136524.1:n.1323T>C
NR_136524.2:n.1300T>C
ENST00000331677.7:c.1284T>C	ENSP00000332151.2:p.Tyr428=
ENST00000359564.2:c.1284T>C	ENSP00000352567.2:p.Tyr428=
ENST00000359564.3:c.*149T>C	ENSP00000352567.3:n.*149T>C
ENST00000452085.7:c.1284T>C	ENSP00000404049.2:p.Tyr428=
ENST00000606712.1:n.1188T>C
ENST00000644499.1:c.766+4559T>C	ENSP00000495266.1:n.766+4559T>C
ENST00000646710.1:c.*149T>C	ENSP00000495970.1:n.*149T>C
ENST00000647244.1:c.*149T>C	ENSP00000495184.1:n.*149T>C
XM_011535785.1:c.249T>C	XP_011534087.1:p.Tyr83=
XM_017010795.1:c.1341T>C	XP_016866284.1:p.Tyr447=
XM_017010796.1:c.1284T>C	XP_016866285.1:p.Tyr428=
XM_017010797.1:c.*149T>C	XP_016866286.1:n.*149T>C