Canonical Allele Identifier: CA3969777

Gene: DSE

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116436654G>A , CM000668.2:g.116436654G>A	GRCh38
NC_000006.11:g.116757817G>A , CM000668.1:g.116757817G>A	GRCh37
NC_000006.10:g.116864510G>A	NCBI36
NG_033266.1:g.161535G>A
NG_033266.3:g.187503G>A
NG_033266.4:g.187484G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_013352.4:c.2186G>A MANE Select	NP_037484.1:p.Ser729Asn
ENST00000644252.3:c.2186G>A MANE Select	ENSP00000494147.2:p.Ser729Asn
NM_001080976.1:c.2186G>A	NP_001074445.1:p.Ser729Asn
NM_001080976.2:c.2186G>A	NP_001074445.1:p.Ser729Asn
NM_001080976.3:c.2186G>A	NP_001074445.1:p.Ser729Asn
NM_001322937.1:c.2186G>A	NP_001309866.1:p.Ser729Asn
NM_001322937.2:c.2186G>A	NP_001309866.1:p.Ser729Asn
NM_001322938.1:c.2186G>A	NP_001309867.1:p.Ser729Asn
NM_001322938.2:c.2186G>A	NP_001309867.1:p.Ser729Asn
NM_001322939.1:c.2243G>A	NP_001309868.1:p.Ser748Asn
NM_001322939.2:c.2243G>A	NP_001309868.1:p.Ser748Asn
NM_001322940.1:c.1625G>A	NP_001309869.1:p.Ser542Asn
NM_001322940.2:c.1625G>A	NP_001309869.1:p.Ser542Asn
NM_001322941.1:c.1625G>A	NP_001309870.1:p.Ser542Asn
NM_001322941.2:c.1625G>A	NP_001309870.1:p.Ser542Asn
NM_001322943.1:c.*1051G>A	NP_001309872.1:n.*1051G>A
NM_001322943.2:c.*1051G>A	NP_001309872.1:n.*1051G>A
NM_001322944.1:c.*1051G>A	NP_001309873.1:n.*1051G>A
NM_001322944.2:c.*1051G>A	NP_001309873.1:n.*1051G>A
NM_001374520.1:c.1187G>A	NP_001361449.1:p.Ser396Asn
NM_001374521.1:c.1151G>A	NP_001361450.1:p.Ser384Asn
NM_013352.2:c.2186G>A	NP_037484.1:p.Ser729Asn
NM_013352.3:c.2186G>A	NP_037484.1:p.Ser729Asn
NR_136524.1:n.2225G>A
NR_136524.2:n.2202G>A
ENST00000331677.7:c.2186G>A	ENSP00000332151.2:p.Ser729Asn
ENST00000359564.2:c.2186G>A	ENSP00000352567.2:p.Ser729Asn
ENST00000359564.3:c.*1051G>A	ENSP00000352567.3:n.*1051G>A
ENST00000452085.7:c.2186G>A	ENSP00000404049.2:p.Ser729Asn
ENST00000606712.1:n.2090G>A
ENST00000644499.1:c.766+5461G>A	ENSP00000495266.1:n.766+5461G>A
ENST00000646710.1:c.*1051G>A	ENSP00000495970.1:n.*1051G>A
XM_011535785.1:c.1151G>A	XP_011534087.1:p.Ser384Asn
XM_017010795.1:c.2243G>A	XP_016866284.1:p.Ser748Asn
XM_017010796.1:c.2186G>A	XP_016866285.1:p.Ser729Asn
XM_017010797.1:c.*1051G>A	XP_016866286.1:n.*1051G>A