Canonical Allele Identifier: CA516420189

Gene: HUWE1

Linked Data

• dbSNP Id: rs1556910083
• gnomAD v2: X-53561483-A-G
• gnomAD v4: X-53534522-A-G
• MyVariant Identifiers: chrX:g.53561483A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534522A>G , CM000685.2:g.53534522A>G	GRCh38
NC_000023.10:g.53561483A>G , CM000685.1:g.53561483A>G	GRCh37
NC_000023.9:g.53578208A>G	NCBI36
NG_016261.2:g.157212T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12609T>C	ENSP00000515693.1:p.Ser4203=
ENST00000262854.11:c.12825T>C MANE Select	ENSP00000262854.6:p.Ser4275=
ENST00000262854.10:c.12825T>C	ENSP00000262854.6:p.Ser4275=
ENST00000342160.7:c.12825T>C	ENSP00000340648.3:p.Ser4275=
ENST00000426907.5:c.3292T>C
ENST00000488459.1:n.138T>C
ENST00000612484.4:c.12798T>C	ENSP00000479451.1:p.Ser4266=
NM_031407.6:c.12825T>C	NP_113584.3:p.Ser4275=
XM_005261965.2:c.12825T>C	XP_005262022.1:p.Ser4275=
XM_011530746.1:c.13074T>C	XP_011529048.1:p.Ser4358=
XM_011530747.1:c.13074T>C	XP_011529049.1:p.Ser4358=
XM_011530748.1:c.13074T>C	XP_011529050.1:p.Ser4358=
XM_011530749.1:c.13074T>C	XP_011529051.1:p.Ser4358=
XM_011530750.1:c.13074T>C	XP_011529052.1:p.Ser4358=
XM_011530751.1:c.13074T>C	XP_011529053.1:p.Ser4358=
XM_011530752.1:c.13071T>C	XP_011529054.1:p.Ser4357=
XM_011530753.1:c.13029T>C	XP_011529055.1:p.Ser4343=
XM_011530754.1:c.13026T>C	XP_011529056.1:p.Ser4342=
XM_011530755.1:c.13023T>C	XP_011529057.1:p.Ser4341=
XM_011530756.1:c.12975T>C	XP_011529058.1:p.Ser4325=
XM_011530757.1:c.12672T>C	XP_011529059.1:p.Ser4224=
XM_005261965.4:c.12825T>C	XP_005262022.1:p.Ser4275=
XM_011530751.2:c.13074T>C	XP_011529053.1:p.Ser4358=
XM_017029191.1:c.13206T>C	XP_016884680.1:p.Ser4402=
XM_017029192.1:c.13203T>C	XP_016884681.1:p.Ser4401=
XM_017029193.1:c.13185T>C	XP_016884682.1:p.Ser4395=
XM_017029194.1:c.13161T>C	XP_016884683.1:p.Ser4387=
XM_017029195.1:c.13158T>C	XP_016884684.1:p.Ser4386=
XM_017029196.1:c.13155T>C	XP_016884685.1:p.Ser4385=
XM_017029197.1:c.13107T>C	XP_016884686.1:p.Ser4369=
XM_017029198.2:c.13095T>C	XP_016884687.1:p.Ser4365=
XM_017029199.1:c.13095T>C	XP_016884688.1:p.Ser4365=
XM_017029200.1:c.13095T>C	XP_016884689.1:p.Ser4365=
XM_017029201.1:c.13095T>C	XP_016884690.1:p.Ser4365=
XM_017029202.1:c.13095T>C	XP_016884691.1:p.Ser4365=
XM_017029203.1:c.13095T>C	XP_016884692.1:p.Ser4365=
XM_017029204.1:c.12957T>C	XP_016884693.1:p.Ser4319=
XM_017029206.1:c.12804T>C	XP_016884695.1:p.Ser4268=
XM_024452322.1:c.13074T>C	XP_024308090.1:p.Ser4358=
NM_031407.7:c.12825T>C MANE Select	NP_113584.3:p.Ser4275=