Canonical Allele Identifier: CA413145295

Gene: HUWE1

Linked Data

• ClinVar Variation Id: 1878799
• ClinVar RCV Id: RCV002511300
• COSMIC: COSM404347 ; COSM404348
• MyVariant Identifiers: chrX:g.53561134G>A (hg19) ; chrX:g.53534173G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534173G>A , CM000685.2:g.53534173G>A	GRCh38
NC_000023.10:g.53561134G>A , CM000685.1:g.53561134G>A	GRCh37
NC_000023.9:g.53577859G>A	NCBI36
NG_016261.2:g.157561C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12640C>T	ENSP00000515693.1:p.Arg4214Cys
ENST00000262854.11:c.12856C>T MANE Select	ENSP00000262854.6:p.Arg4286Cys
ENST00000262854.10:c.12856C>T	ENSP00000262854.6:p.Arg4286Cys
ENST00000342160.7:c.12856C>T	ENSP00000340648.3:p.Arg4286Cys
ENST00000426907.5:c.3323C>T
ENST00000488459.1:n.169C>T
ENST00000612484.4:c.12829C>T	ENSP00000479451.1:p.Arg4277Cys
NM_031407.6:c.12856C>T	NP_113584.3:p.Arg4286Cys
XM_005261965.2:c.12856C>T	XP_005262022.1:p.Arg4286Cys
XM_011530746.1:c.13105C>T	XP_011529048.1:p.Arg4369Cys
XM_011530747.1:c.13105C>T	XP_011529049.1:p.Arg4369Cys
XM_011530748.1:c.13105C>T	XP_011529050.1:p.Arg4369Cys
XM_011530749.1:c.13105C>T	XP_011529051.1:p.Arg4369Cys
XM_011530750.1:c.13105C>T	XP_011529052.1:p.Arg4369Cys
XM_011530751.1:c.13105C>T	XP_011529053.1:p.Arg4369Cys
XM_011530752.1:c.13102C>T	XP_011529054.1:p.Arg4368Cys
XM_011530753.1:c.13060C>T	XP_011529055.1:p.Arg4354Cys
XM_011530754.1:c.13057C>T	XP_011529056.1:p.Arg4353Cys
XM_011530755.1:c.13054C>T	XP_011529057.1:p.Arg4352Cys
XM_011530756.1:c.13006C>T	XP_011529058.1:p.Arg4336Cys
XM_011530757.1:c.12703C>T	XP_011529059.1:p.Arg4235Cys
XM_005261965.4:c.12856C>T	XP_005262022.1:p.Arg4286Cys
XM_011530751.2:c.13105C>T	XP_011529053.1:p.Arg4369Cys
XM_017029191.1:c.13237C>T	XP_016884680.1:p.Arg4413Cys
XM_017029192.1:c.13234C>T	XP_016884681.1:p.Arg4412Cys
XM_017029193.1:c.13216C>T	XP_016884682.1:p.Arg4406Cys
XM_017029194.1:c.13192C>T	XP_016884683.1:p.Arg4398Cys
XM_017029195.1:c.13189C>T	XP_016884684.1:p.Arg4397Cys
XM_017029196.1:c.13186C>T	XP_016884685.1:p.Arg4396Cys
XM_017029197.1:c.13138C>T	XP_016884686.1:p.Arg4380Cys
XM_017029198.2:c.13126C>T	XP_016884687.1:p.Arg4376Cys
XM_017029199.1:c.13126C>T	XP_016884688.1:p.Arg4376Cys
XM_017029200.1:c.13126C>T	XP_016884689.1:p.Arg4376Cys
XM_017029201.1:c.13126C>T	XP_016884690.1:p.Arg4376Cys
XM_017029202.1:c.13126C>T	XP_016884691.1:p.Arg4376Cys
XM_017029203.1:c.13126C>T	XP_016884692.1:p.Arg4376Cys
XM_017029204.1:c.12988C>T	XP_016884693.1:p.Arg4330Cys
XM_017029206.1:c.12835C>T	XP_016884695.1:p.Arg4279Cys
XM_024452322.1:c.13105C>T	XP_024308090.1:p.Arg4369Cys
NM_031407.7:c.12856C>T MANE Select	NP_113584.3:p.Arg4286Cys