Canonical Allele Identifier: CA365534208

Gene: DSE

Linked Data

• MyVariant Identifiers: chr6:g.116720584G>C (hg19) ; chr6:g.116399421G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116399421G>C , CM000668.2:g.116399421G>C	GRCh38
NC_000006.11:g.116720584G>C , CM000668.1:g.116720584G>C	GRCh37
NC_000006.10:g.116827277G>C	NCBI36
NG_033266.1:g.124302G>C
NG_033266.3:g.150270G>C
NG_033266.4:g.150251G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359564.3:c.171G>C	ENSP00000352567.3:p.Gln57His
ENST00000643175.1:c.171G>C	ENSP00000495885.1:p.Gln57His
ENST00000644252.3:c.171G>C MANE Select	ENSP00000494147.2:p.Gln57His
ENST00000644499.1:c.27G>C	ENSP00000495266.1:p.Gln9His
ENST00000645988.1:c.171G>C	ENSP00000494202.1:p.Gln57His
ENST00000646710.1:c.171G>C	ENSP00000495970.1:p.Gln57His
ENST00000647244.1:c.171G>C	ENSP00000495184.1:p.Gln57His
ENST00000331677.7:c.171G>C	ENSP00000332151.2:p.Gln57His
ENST00000359564.2:c.171G>C	ENSP00000352567.2:p.Gln57His
ENST00000430252.6:c.171G>C	ENSP00000397597.2:p.Gln57His
ENST00000452085.7:c.171G>C	ENSP00000404049.2:p.Gln57His
ENST00000607094.1:n.813G>C
NM_001080976.1:c.171G>C	NP_001074445.1:p.Gln57His
NM_013352.2:c.171G>C	NP_037484.1:p.Gln57His
XM_011535785.1:c.-417G>C	XP_011534087.1:n.-417G>C
NM_001080976.2:c.171G>C	NP_001074445.1:p.Gln57His
NM_001322937.1:c.171G>C	NP_001309866.1:p.Gln57His
NM_001322938.1:c.171G>C	NP_001309867.1:p.Gln57His
NM_001322939.1:c.228G>C	NP_001309868.1:p.Gln76His
NM_001322940.1:c.-387G>C	NP_001309869.1:n.-387G>C
NM_001322941.1:c.-387G>C	NP_001309870.1:n.-387G>C
NM_001322943.1:c.171G>C	NP_001309872.1:p.Gln57His
NM_001322944.1:c.171G>C	NP_001309873.1:p.Gln57His
NM_013352.3:c.171G>C	NP_037484.1:p.Gln57His
NR_136524.1:n.422G>C
XM_017010795.1:c.228G>C	XP_016866284.1:p.Gln76His
XM_017010796.1:c.171G>C	XP_016866285.1:p.Gln57His
XM_017010797.1:c.228G>C	XP_016866286.1:p.Gln76His
NM_001080976.3:c.171G>C	NP_001074445.1:p.Gln57His
NM_001322937.2:c.171G>C	NP_001309866.1:p.Gln57His
NM_001322938.2:c.171G>C	NP_001309867.1:p.Gln57His
NM_001322939.2:c.228G>C	NP_001309868.1:p.Gln76His
NM_001322940.2:c.-387G>C	NP_001309869.1:n.-387G>C
NM_001322941.2:c.-387G>C	NP_001309870.1:n.-387G>C
NM_001322943.2:c.171G>C	NP_001309872.1:p.Gln57His
NM_001322944.2:c.171G>C	NP_001309873.1:p.Gln57His
NM_001374520.1:c.-730G>C	NP_001361449.1:n.-730G>C
NM_001374521.1:c.-417G>C	NP_001361450.1:n.-417G>C
NM_001374522.1:c.171G>C	NP_001361451.1:p.Gln57His
NM_013352.4:c.171G>C MANE Select	NP_037484.1:p.Gln57His
NR_136524.2:n.399G>C