Canonical Allele Identifier: CA516418220

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53560979T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534018T>A , CM000685.2:g.53534018T>A	GRCh38
NC_000023.10:g.53560979T>A , CM000685.1:g.53560979T>A	GRCh37
NC_000023.9:g.53577704T>A	NCBI36
NG_016261.2:g.157716A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12795A>T	ENSP00000515693.1:p.Ser4265=
ENST00000262854.11:c.13011A>T MANE Select	ENSP00000262854.6:p.Ser4337=
ENST00000262854.10:c.13011A>T	ENSP00000262854.6:p.Ser4337=
ENST00000342160.7:c.13011A>T	ENSP00000340648.3:p.Ser4337=
ENST00000426907.5:c.3478A>T
ENST00000488459.1:n.324A>T
ENST00000612484.4:c.12984A>T	ENSP00000479451.1:p.Ser4328=
NM_031407.6:c.13011A>T	NP_113584.3:p.Ser4337=
XM_005261965.2:c.13011A>T	XP_005262022.1:p.Ser4337=
XM_011530746.1:c.13260A>T	XP_011529048.1:p.Ser4420=
XM_011530747.1:c.13260A>T	XP_011529049.1:p.Ser4420=
XM_011530748.1:c.13260A>T	XP_011529050.1:p.Ser4420=
XM_011530749.1:c.13260A>T	XP_011529051.1:p.Ser4420=
XM_011530750.1:c.13260A>T	XP_011529052.1:p.Ser4420=
XM_011530751.1:c.13260A>T	XP_011529053.1:p.Ser4420=
XM_011530752.1:c.13257A>T	XP_011529054.1:p.Ser4419=
XM_011530753.1:c.13215A>T	XP_011529055.1:p.Ser4405=
XM_011530754.1:c.13212A>T	XP_011529056.1:p.Ser4404=
XM_011530755.1:c.13209A>T	XP_011529057.1:p.Ser4403=
XM_011530756.1:c.13161A>T	XP_011529058.1:p.Ser4387=
XM_011530757.1:c.12858A>T	XP_011529059.1:p.Ser4286=
XM_005261965.4:c.13011A>T	XP_005262022.1:p.Ser4337=
XM_011530751.2:c.13260A>T	XP_011529053.1:p.Ser4420=
XM_017029191.1:c.13392A>T	XP_016884680.1:p.Ser4464=
XM_017029192.1:c.13389A>T	XP_016884681.1:p.Ser4463=
XM_017029193.1:c.13371A>T	XP_016884682.1:p.Ser4457=
XM_017029194.1:c.13347A>T	XP_016884683.1:p.Ser4449=
XM_017029195.1:c.13344A>T	XP_016884684.1:p.Ser4448=
XM_017029196.1:c.13341A>T	XP_016884685.1:p.Ser4447=
XM_017029197.1:c.13293A>T	XP_016884686.1:p.Ser4431=
XM_017029198.2:c.13281A>T	XP_016884687.1:p.Ser4427=
XM_017029199.1:c.13281A>T	XP_016884688.1:p.Ser4427=
XM_017029200.1:c.13281A>T	XP_016884689.1:p.Ser4427=
XM_017029201.1:c.13281A>T	XP_016884690.1:p.Ser4427=
XM_017029202.1:c.13281A>T	XP_016884691.1:p.Ser4427=
XM_017029203.1:c.13281A>T	XP_016884692.1:p.Ser4427=
XM_017029204.1:c.13143A>T	XP_016884693.1:p.Ser4381=
XM_017029206.1:c.12990A>T	XP_016884695.1:p.Ser4330=
XM_024452322.1:c.13260A>T	XP_024308090.1:p.Ser4420=
NM_031407.7:c.13011A>T MANE Select	NP_113584.3:p.Ser4337=