Canonical Allele Identifier: CA413164695

Gene: HUWE1

Linked Data

• ClinVar Variation Id: 523539
• ClinVar RCV Id: RCV000626971
• dbSNP Id: rs1556948950
• MyVariant Identifiers: chrX:g.53596615C>G (hg19) ; chrX:g.53569655C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53569655C>G , CM000685.2:g.53569655C>G	GRCh38
NC_000023.10:g.53596615C>G , CM000685.1:g.53596615C>G	GRCh37
NC_000023.9:g.53613340C>G	NCBI36
NG_016261.2:g.122079G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.6482G>C	ENSP00000515693.1:p.Arg2161Pro
ENST00000262854.11:c.6485G>C MANE Select	ENSP00000262854.6:p.Arg2162Pro
ENST00000262854.10:c.6485G>C	ENSP00000262854.6:p.Arg2162Pro
ENST00000342160.7:c.6485G>C	ENSP00000340648.3:p.Arg2162Pro
ENST00000612484.4:c.6458G>C	ENSP00000479451.1:p.Arg2153Pro
NM_031407.6:c.6485G>C	NP_113584.3:p.Arg2162Pro
XM_005261965.2:c.6485G>C	XP_005262022.1:p.Arg2162Pro
XM_011530746.1:c.6734G>C	XP_011529048.1:p.Arg2245Pro
XM_011530747.1:c.6734G>C	XP_011529049.1:p.Arg2245Pro
XM_011530748.1:c.6734G>C	XP_011529050.1:p.Arg2245Pro
XM_011530749.1:c.6734G>C	XP_011529051.1:p.Arg2245Pro
XM_011530750.1:c.6734G>C	XP_011529052.1:p.Arg2245Pro
XM_011530751.1:c.6734G>C	XP_011529053.1:p.Arg2245Pro
XM_011530752.1:c.6731G>C	XP_011529054.1:p.Arg2244Pro
XM_011530753.1:c.6734G>C	XP_011529055.1:p.Arg2245Pro
XM_011530754.1:c.6734G>C	XP_011529056.1:p.Arg2245Pro
XM_011530755.1:c.6731G>C	XP_011529057.1:p.Arg2244Pro
XM_011530756.1:c.6734G>C	XP_011529058.1:p.Arg2245Pro
XM_011530757.1:c.6734G>C	XP_011529059.1:p.Arg2245Pro
XM_011530758.1:c.6734G>C	XP_011529060.1:p.Arg2245Pro
XR_938360.1:n.7169G>C
XM_005261965.4:c.6485G>C	XP_005262022.1:p.Arg2162Pro
XM_011530751.2:c.6734G>C	XP_011529053.1:p.Arg2245Pro
XM_017029191.1:c.6866G>C	XP_016884680.1:p.Arg2289Pro
XM_017029192.1:c.6863G>C	XP_016884681.1:p.Arg2288Pro
XM_017029193.1:c.6845G>C	XP_016884682.1:p.Arg2282Pro
XM_017029194.1:c.6866G>C	XP_016884683.1:p.Arg2289Pro
XM_017029195.1:c.6866G>C	XP_016884684.1:p.Arg2289Pro
XM_017029196.1:c.6863G>C	XP_016884685.1:p.Arg2288Pro
XM_017029197.1:c.6866G>C	XP_016884686.1:p.Arg2289Pro
XM_017029198.2:c.6755G>C	XP_016884687.1:p.Arg2252Pro
XM_017029199.1:c.6755G>C	XP_016884688.1:p.Arg2252Pro
XM_017029200.1:c.6755G>C	XP_016884689.1:p.Arg2252Pro
XM_017029201.1:c.6755G>C	XP_016884690.1:p.Arg2252Pro
XM_017029202.1:c.6755G>C	XP_016884691.1:p.Arg2252Pro
XM_017029203.1:c.6755G>C	XP_016884692.1:p.Arg2252Pro
XM_017029204.1:c.6617G>C	XP_016884693.1:p.Arg2206Pro
XM_017029206.1:c.6866G>C	XP_016884695.1:p.Arg2289Pro
XM_024452322.1:c.6734G>C	XP_024308090.1:p.Arg2245Pro
NM_031407.7:c.6485G>C MANE Select	NP_113584.3:p.Arg2162Pro