Canonical Allele Identifier: CA413146952

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561623C>G (hg19) ; chrX:g.53534662C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534662C>G , CM000685.2:g.53534662C>G	GRCh38
NC_000023.10:g.53561623C>G , CM000685.1:g.53561623C>G	GRCh37
NC_000023.9:g.53578348C>G	NCBI36
NG_016261.2:g.157072G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12469G>C	ENSP00000515693.1:p.Gly4157Arg
ENST00000262854.11:c.12685G>C MANE Select	ENSP00000262854.6:p.Gly4229Arg
ENST00000262854.10:c.12685G>C	ENSP00000262854.6:p.Gly4229Arg
ENST00000342160.7:c.12685G>C	ENSP00000340648.3:p.Gly4229Arg
ENST00000426907.5:c.3152G>C
ENST00000612484.4:c.12658G>C	ENSP00000479451.1:p.Gly4220Arg
NM_031407.6:c.12685G>C	NP_113584.3:p.Gly4229Arg
XM_005261965.2:c.12685G>C	XP_005262022.1:p.Gly4229Arg
XM_011530746.1:c.12934G>C	XP_011529048.1:p.Gly4312Arg
XM_011530747.1:c.12934G>C	XP_011529049.1:p.Gly4312Arg
XM_011530748.1:c.12934G>C	XP_011529050.1:p.Gly4312Arg
XM_011530749.1:c.12934G>C	XP_011529051.1:p.Gly4312Arg
XM_011530750.1:c.12934G>C	XP_011529052.1:p.Gly4312Arg
XM_011530751.1:c.12934G>C	XP_011529053.1:p.Gly4312Arg
XM_011530752.1:c.12931G>C	XP_011529054.1:p.Gly4311Arg
XM_011530753.1:c.12889G>C	XP_011529055.1:p.Gly4297Arg
XM_011530754.1:c.12886G>C	XP_011529056.1:p.Gly4296Arg
XM_011530755.1:c.12883G>C	XP_011529057.1:p.Gly4295Arg
XM_011530756.1:c.12835G>C	XP_011529058.1:p.Gly4279Arg
XM_011530757.1:c.12532G>C	XP_011529059.1:p.Gly4178Arg
XM_005261965.4:c.12685G>C	XP_005262022.1:p.Gly4229Arg
XM_011530751.2:c.12934G>C	XP_011529053.1:p.Gly4312Arg
XM_017029191.1:c.13066G>C	XP_016884680.1:p.Gly4356Arg
XM_017029192.1:c.13063G>C	XP_016884681.1:p.Gly4355Arg
XM_017029193.1:c.13045G>C	XP_016884682.1:p.Gly4349Arg
XM_017029194.1:c.13021G>C	XP_016884683.1:p.Gly4341Arg
XM_017029195.1:c.13018G>C	XP_016884684.1:p.Gly4340Arg
XM_017029196.1:c.13015G>C	XP_016884685.1:p.Gly4339Arg
XM_017029197.1:c.12967G>C	XP_016884686.1:p.Gly4323Arg
XM_017029198.2:c.12955G>C	XP_016884687.1:p.Gly4319Arg
XM_017029199.1:c.12955G>C	XP_016884688.1:p.Gly4319Arg
XM_017029200.1:c.12955G>C	XP_016884689.1:p.Gly4319Arg
XM_017029201.1:c.12955G>C	XP_016884690.1:p.Gly4319Arg
XM_017029202.1:c.12955G>C	XP_016884691.1:p.Gly4319Arg
XM_017029203.1:c.12955G>C	XP_016884692.1:p.Gly4319Arg
XM_017029204.1:c.12817G>C	XP_016884693.1:p.Gly4273Arg
XM_017029206.1:c.12664G>C	XP_016884695.1:p.Gly4222Arg
XM_024452322.1:c.12934G>C	XP_024308090.1:p.Gly4312Arg
NM_031407.7:c.12685G>C MANE Select	NP_113584.3:p.Gly4229Arg