Canonical Allele Identifier: CA3969692

Gene: DSE

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116436121G>A , CM000668.2:g.116436121G>A	GRCh38
NC_000006.11:g.116757284G>A , CM000668.1:g.116757284G>A	GRCh37
NC_000006.10:g.116863977G>A	NCBI36
NG_033266.1:g.161002G>A
NG_033266.3:g.186970G>A
NG_033266.4:g.186951G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359564.3:c.*518G>A	ENSP00000352567.3:n.*518G>A
ENST00000644252.3:c.1653G>A MANE Select	ENSP00000494147.2:p.Leu551=
ENST00000644499.1:c.766+4928G>A	ENSP00000495266.1:n.766+4928G>A
ENST00000646710.1:c.*518G>A	ENSP00000495970.1:n.*518G>A
ENST00000331677.7:c.1653G>A	ENSP00000332151.2:p.Leu551=
ENST00000359564.2:c.1653G>A	ENSP00000352567.2:p.Leu551=
ENST00000452085.7:c.1653G>A	ENSP00000404049.2:p.Leu551=
ENST00000606712.1:n.1557G>A
NM_001080976.1:c.1653G>A	NP_001074445.1:p.Leu551=
NM_013352.2:c.1653G>A	NP_037484.1:p.Leu551=
XM_011535785.1:c.618G>A	XP_011534087.1:p.Leu206=
NM_001080976.2:c.1653G>A	NP_001074445.1:p.Leu551=
NM_001322937.1:c.1653G>A	NP_001309866.1:p.Leu551=
NM_001322938.1:c.1653G>A	NP_001309867.1:p.Leu551=
NM_001322939.1:c.1710G>A	NP_001309868.1:p.Leu570=
NM_001322940.1:c.1092G>A	NP_001309869.1:p.Leu364=
NM_001322941.1:c.1092G>A	NP_001309870.1:p.Leu364=
NM_001322943.1:c.*518G>A	NP_001309872.1:n.*518G>A
NM_001322944.1:c.*518G>A	NP_001309873.1:n.*518G>A
NM_013352.3:c.1653G>A	NP_037484.1:p.Leu551=
NR_136524.1:n.1692G>A
XM_017010795.1:c.1710G>A	XP_016866284.1:p.Leu570=
XM_017010796.1:c.1653G>A	XP_016866285.1:p.Leu551=
XM_017010797.1:c.*518G>A	XP_016866286.1:n.*518G>A
NM_001080976.3:c.1653G>A	NP_001074445.1:p.Leu551=
NM_001322937.2:c.1653G>A	NP_001309866.1:p.Leu551=
NM_001322938.2:c.1653G>A	NP_001309867.1:p.Leu551=
NM_001322939.2:c.1710G>A	NP_001309868.1:p.Leu570=
NM_001322940.2:c.1092G>A	NP_001309869.1:p.Leu364=
NM_001322941.2:c.1092G>A	NP_001309870.1:p.Leu364=
NM_001322943.2:c.*518G>A	NP_001309872.1:n.*518G>A
NM_001322944.2:c.*518G>A	NP_001309873.1:n.*518G>A
NM_001374520.1:c.654G>A	NP_001361449.1:p.Leu218=
NM_001374521.1:c.618G>A	NP_001361450.1:p.Leu206=
NM_013352.4:c.1653G>A MANE Select	NP_037484.1:p.Leu551=
NR_136524.2:n.1669G>A