Canonical Allele Identifier: CA413145403

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561143T>C (hg19) ; chrX:g.53534182T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534182T>C , CM000685.2:g.53534182T>C	GRCh38
NC_000023.10:g.53561143T>C , CM000685.1:g.53561143T>C	GRCh37
NC_000023.9:g.53577868T>C	NCBI36
NG_016261.2:g.157552A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12631A>G	ENSP00000515693.1:p.Arg4211Gly
ENST00000262854.11:c.12847A>G MANE Select	ENSP00000262854.6:p.Arg4283Gly
ENST00000262854.10:c.12847A>G	ENSP00000262854.6:p.Arg4283Gly
ENST00000342160.7:c.12847A>G	ENSP00000340648.3:p.Arg4283Gly
ENST00000426907.5:c.3314A>G
ENST00000488459.1:n.160A>G
ENST00000612484.4:c.12820A>G	ENSP00000479451.1:p.Arg4274Gly
NM_031407.6:c.12847A>G	NP_113584.3:p.Arg4283Gly
XM_005261965.2:c.12847A>G	XP_005262022.1:p.Arg4283Gly
XM_011530746.1:c.13096A>G	XP_011529048.1:p.Arg4366Gly
XM_011530747.1:c.13096A>G	XP_011529049.1:p.Arg4366Gly
XM_011530748.1:c.13096A>G	XP_011529050.1:p.Arg4366Gly
XM_011530749.1:c.13096A>G	XP_011529051.1:p.Arg4366Gly
XM_011530750.1:c.13096A>G	XP_011529052.1:p.Arg4366Gly
XM_011530751.1:c.13096A>G	XP_011529053.1:p.Arg4366Gly
XM_011530752.1:c.13093A>G	XP_011529054.1:p.Arg4365Gly
XM_011530753.1:c.13051A>G	XP_011529055.1:p.Arg4351Gly
XM_011530754.1:c.13048A>G	XP_011529056.1:p.Arg4350Gly
XM_011530755.1:c.13045A>G	XP_011529057.1:p.Arg4349Gly
XM_011530756.1:c.12997A>G	XP_011529058.1:p.Arg4333Gly
XM_011530757.1:c.12694A>G	XP_011529059.1:p.Arg4232Gly
XM_005261965.4:c.12847A>G	XP_005262022.1:p.Arg4283Gly
XM_011530751.2:c.13096A>G	XP_011529053.1:p.Arg4366Gly
XM_017029191.1:c.13228A>G	XP_016884680.1:p.Arg4410Gly
XM_017029192.1:c.13225A>G	XP_016884681.1:p.Arg4409Gly
XM_017029193.1:c.13207A>G	XP_016884682.1:p.Arg4403Gly
XM_017029194.1:c.13183A>G	XP_016884683.1:p.Arg4395Gly
XM_017029195.1:c.13180A>G	XP_016884684.1:p.Arg4394Gly
XM_017029196.1:c.13177A>G	XP_016884685.1:p.Arg4393Gly
XM_017029197.1:c.13129A>G	XP_016884686.1:p.Arg4377Gly
XM_017029198.2:c.13117A>G	XP_016884687.1:p.Arg4373Gly
XM_017029199.1:c.13117A>G	XP_016884688.1:p.Arg4373Gly
XM_017029200.1:c.13117A>G	XP_016884689.1:p.Arg4373Gly
XM_017029201.1:c.13117A>G	XP_016884690.1:p.Arg4373Gly
XM_017029202.1:c.13117A>G	XP_016884691.1:p.Arg4373Gly
XM_017029203.1:c.13117A>G	XP_016884692.1:p.Arg4373Gly
XM_017029204.1:c.12979A>G	XP_016884693.1:p.Arg4327Gly
XM_017029206.1:c.12826A>G	XP_016884695.1:p.Arg4276Gly
XM_024452322.1:c.13096A>G	XP_024308090.1:p.Arg4366Gly
NM_031407.7:c.12847A>G MANE Select	NP_113584.3:p.Arg4283Gly