Canonical Allele Identifier: CA146388230

Gene: DSE

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116371116G>T , CM000668.2:g.116371116G>T	GRCh38
NC_000006.11:g.116692279G>T , CM000668.1:g.116692279G>T	GRCh37
NC_000006.10:g.116798972G>T	NCBI36
NG_033266.1:g.95997G>T
NG_033266.3:g.121965G>T
NG_033266.4:g.121946G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359564.3:c.-59G>T	ENSP00000352567.3:n.-59G>T
ENST00000643175.1:c.-54+1189G>T	ENSP00000495885.1:n.-54+1189G>T
ENST00000644252.3:c.-59G>T MANE Select	ENSP00000494147.2:n.-59G>T
ENST00000645988.1:c.-54+1189G>T	ENSP00000494202.1:n.-54+1189G>T
ENST00000646710.1:c.-59G>T	ENSP00000495970.1:n.-59G>T
ENST00000647244.1:c.-53-28082G>T	ENSP00000495184.1:n.-53-28082G>T
ENST00000331677.7:c.-59G>T	ENSP00000332151.2:n.-59G>T
ENST00000359564.2:c.-59G>T	ENSP00000352567.2:n.-59G>T
ENST00000430252.6:c.-53-28082G>T	ENSP00000397597.2:n.-53-28082G>T
ENST00000452085.7:c.-53-28082G>T	ENSP00000404049.2:n.-53-28082G>T
ENST00000607094.1:n.590-28082G>T
NM_001080976.1:c.-53-28082G>T	NP_001074445.1:n.-53-28082G>T
NM_013352.2:c.-59G>T	NP_037484.1:n.-59G>T
NM_001080976.2:c.-53-28082G>T	NP_001074445.1:n.-53-28082G>T
NM_001322937.1:c.-53-28082G>T	NP_001309866.1:n.-53-28082G>T
NM_001322938.1:c.-53-28082G>T	NP_001309867.1:n.-53-28082G>T
NM_001322939.1:c.4+1189G>T	NP_001309868.1:n.4+1189G>T
NM_001322940.1:c.-610-28082G>T	NP_001309869.1:n.-610-28082G>T
NM_001322941.1:c.-616G>T	NP_001309870.1:n.-616G>T
NM_001322943.1:c.-59G>T	NP_001309872.1:n.-59G>T
NM_001322944.1:c.-59G>T	NP_001309873.1:n.-59G>T
NM_013352.3:c.-59G>T	NP_037484.1:n.-59G>T
NR_136524.1:n.199-28082G>T
NR_148944.1:n.604C>A
XM_017010795.1:c.4+1189G>T	XP_016866284.1:n.4+1189G>T
XM_017010797.1:c.4+1189G>T	XP_016866286.1:n.4+1189G>T
NM_001080976.3:c.-53-28082G>T	NP_001074445.1:n.-53-28082G>T
NM_001322937.2:c.-53-28082G>T	NP_001309866.1:n.-53-28082G>T
NM_001322938.2:c.-53-28082G>T	NP_001309867.1:n.-53-28082G>T
NM_001322939.2:c.4+1189G>T	NP_001309868.1:n.4+1189G>T
NM_001322940.2:c.-610-28082G>T	NP_001309869.1:n.-610-28082G>T
NM_001322941.2:c.-616G>T	NP_001309870.1:n.-616G>T
NM_001322943.2:c.-59G>T	NP_001309872.1:n.-59G>T
NM_001322944.2:c.-59G>T	NP_001309873.1:n.-59G>T
NM_001374520.1:c.-953-28082G>T	NP_001361449.1:n.-953-28082G>T
NM_001374521.1:c.-640-28082G>T	NP_001361450.1:n.-640-28082G>T
NM_001374522.1:c.-53-28082G>T	NP_001361451.1:n.-53-28082G>T
NM_013352.4:c.-59G>T MANE Select	NP_037484.1:n.-59G>T
NR_136524.2:n.176-28082G>T