Canonical Allele Identifier: CA3969848

Gene: DSE

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116437103C>T , CM000668.2:g.116437103C>T	GRCh38
NC_000006.11:g.116758266C>T , CM000668.1:g.116758266C>T	GRCh37
NC_000006.10:g.116864959C>T	NCBI36
NG_033266.1:g.161984C>T
NG_033266.3:g.187952C>T
NG_033266.4:g.187933C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359564.3:c.*1500C>T	ENSP00000352567.3:n.*1500C>T
ENST00000644252.3:c.2635C>T MANE Select	ENSP00000494147.2:p.Arg879Trp
ENST00000644499.1:c.766+5910C>T	ENSP00000495266.1:n.766+5910C>T
ENST00000646710.1:c.*1500C>T	ENSP00000495970.1:n.*1500C>T
ENST00000331677.7:c.2635C>T	ENSP00000332151.2:p.Arg879Trp
ENST00000359564.2:c.2635C>T	ENSP00000352567.2:p.Arg879Trp
ENST00000452085.7:c.2635C>T	ENSP00000404049.2:p.Arg879Trp
ENST00000606712.1:n.2539C>T
NM_001080976.1:c.2635C>T	NP_001074445.1:p.Arg879Trp
NM_013352.2:c.2635C>T	NP_037484.1:p.Arg879Trp
XM_011535785.1:c.1600C>T	XP_011534087.1:p.Arg534Trp
NM_001080976.2:c.2635C>T	NP_001074445.1:p.Arg879Trp
NM_001322937.1:c.2635C>T	NP_001309866.1:p.Arg879Trp
NM_001322938.1:c.2635C>T	NP_001309867.1:p.Arg879Trp
NM_001322939.1:c.2692C>T	NP_001309868.1:p.Arg898Trp
NM_001322940.1:c.2074C>T	NP_001309869.1:p.Arg692Trp
NM_001322941.1:c.2074C>T	NP_001309870.1:p.Arg692Trp
NM_001322943.1:c.*1500C>T	NP_001309872.1:n.*1500C>T
NM_001322944.1:c.*1500C>T	NP_001309873.1:n.*1500C>T
NM_013352.3:c.2635C>T	NP_037484.1:p.Arg879Trp
NR_136524.1:n.2674C>T
XM_017010795.1:c.2692C>T	XP_016866284.1:p.Arg898Trp
XM_017010796.1:c.2635C>T	XP_016866285.1:p.Arg879Trp
XM_017010797.1:c.*1500C>T	XP_016866286.1:n.*1500C>T
NM_001080976.3:c.2635C>T	NP_001074445.1:p.Arg879Trp
NM_001322937.2:c.2635C>T	NP_001309866.1:p.Arg879Trp
NM_001322938.2:c.2635C>T	NP_001309867.1:p.Arg879Trp
NM_001322939.2:c.2692C>T	NP_001309868.1:p.Arg898Trp
NM_001322940.2:c.2074C>T	NP_001309869.1:p.Arg692Trp
NM_001322941.2:c.2074C>T	NP_001309870.1:p.Arg692Trp
NM_001322943.2:c.*1500C>T	NP_001309872.1:n.*1500C>T
NM_001322944.2:c.*1500C>T	NP_001309873.1:n.*1500C>T
NM_001374520.1:c.1636C>T	NP_001361449.1:p.Arg546Trp
NM_001374521.1:c.1600C>T	NP_001361450.1:p.Arg534Trp
NM_013352.4:c.2635C>T MANE Select	NP_037484.1:p.Arg879Trp
NR_136524.2:n.2651C>T