Canonical Allele Identifier: CA413145393

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561142C>G (hg19) ; chrX:g.53534181C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534181C>G , CM000685.2:g.53534181C>G	GRCh38
NC_000023.10:g.53561142C>G , CM000685.1:g.53561142C>G	GRCh37
NC_000023.9:g.53577867C>G	NCBI36
NG_016261.2:g.157553G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12632G>C	ENSP00000515693.1:p.Arg4211Thr
ENST00000262854.11:c.12848G>C MANE Select	ENSP00000262854.6:p.Arg4283Thr
ENST00000262854.10:c.12848G>C	ENSP00000262854.6:p.Arg4283Thr
ENST00000342160.7:c.12848G>C	ENSP00000340648.3:p.Arg4283Thr
ENST00000426907.5:c.3315G>C
ENST00000488459.1:n.161G>C
ENST00000612484.4:c.12821G>C	ENSP00000479451.1:p.Arg4274Thr
NM_031407.6:c.12848G>C	NP_113584.3:p.Arg4283Thr
XM_005261965.2:c.12848G>C	XP_005262022.1:p.Arg4283Thr
XM_011530746.1:c.13097G>C	XP_011529048.1:p.Arg4366Thr
XM_011530747.1:c.13097G>C	XP_011529049.1:p.Arg4366Thr
XM_011530748.1:c.13097G>C	XP_011529050.1:p.Arg4366Thr
XM_011530749.1:c.13097G>C	XP_011529051.1:p.Arg4366Thr
XM_011530750.1:c.13097G>C	XP_011529052.1:p.Arg4366Thr
XM_011530751.1:c.13097G>C	XP_011529053.1:p.Arg4366Thr
XM_011530752.1:c.13094G>C	XP_011529054.1:p.Arg4365Thr
XM_011530753.1:c.13052G>C	XP_011529055.1:p.Arg4351Thr
XM_011530754.1:c.13049G>C	XP_011529056.1:p.Arg4350Thr
XM_011530755.1:c.13046G>C	XP_011529057.1:p.Arg4349Thr
XM_011530756.1:c.12998G>C	XP_011529058.1:p.Arg4333Thr
XM_011530757.1:c.12695G>C	XP_011529059.1:p.Arg4232Thr
XM_005261965.4:c.12848G>C	XP_005262022.1:p.Arg4283Thr
XM_011530751.2:c.13097G>C	XP_011529053.1:p.Arg4366Thr
XM_017029191.1:c.13229G>C	XP_016884680.1:p.Arg4410Thr
XM_017029192.1:c.13226G>C	XP_016884681.1:p.Arg4409Thr
XM_017029193.1:c.13208G>C	XP_016884682.1:p.Arg4403Thr
XM_017029194.1:c.13184G>C	XP_016884683.1:p.Arg4395Thr
XM_017029195.1:c.13181G>C	XP_016884684.1:p.Arg4394Thr
XM_017029196.1:c.13178G>C	XP_016884685.1:p.Arg4393Thr
XM_017029197.1:c.13130G>C	XP_016884686.1:p.Arg4377Thr
XM_017029198.2:c.13118G>C	XP_016884687.1:p.Arg4373Thr
XM_017029199.1:c.13118G>C	XP_016884688.1:p.Arg4373Thr
XM_017029200.1:c.13118G>C	XP_016884689.1:p.Arg4373Thr
XM_017029201.1:c.13118G>C	XP_016884690.1:p.Arg4373Thr
XM_017029202.1:c.13118G>C	XP_016884691.1:p.Arg4373Thr
XM_017029203.1:c.13118G>C	XP_016884692.1:p.Arg4373Thr
XM_017029204.1:c.12980G>C	XP_016884693.1:p.Arg4327Thr
XM_017029206.1:c.12827G>C	XP_016884695.1:p.Arg4276Thr
XM_024452322.1:c.13097G>C	XP_024308090.1:p.Arg4366Thr
NM_031407.7:c.12848G>C MANE Select	NP_113584.3:p.Arg4283Thr