Canonical Allele Identifier: CA413144059

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561035C>T (hg19) ; chrX:g.53534074C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534074C>T , CM000685.2:g.53534074C>T	GRCh38
NC_000023.10:g.53561035C>T , CM000685.1:g.53561035C>T	GRCh37
NC_000023.9:g.53577760C>T	NCBI36
NG_016261.2:g.157660G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12739G>A	ENSP00000515693.1:p.Gly4247Ser
ENST00000262854.11:c.12955G>A MANE Select	ENSP00000262854.6:p.Gly4319Ser
ENST00000262854.10:c.12955G>A	ENSP00000262854.6:p.Gly4319Ser
ENST00000342160.7:c.12955G>A	ENSP00000340648.3:p.Gly4319Ser
ENST00000426907.5:c.3422G>A
ENST00000488459.1:n.268G>A
ENST00000612484.4:c.12928G>A	ENSP00000479451.1:p.Gly4310Ser
NM_031407.6:c.12955G>A	NP_113584.3:p.Gly4319Ser
XM_005261965.2:c.12955G>A	XP_005262022.1:p.Gly4319Ser
XM_011530746.1:c.13204G>A	XP_011529048.1:p.Gly4402Ser
XM_011530747.1:c.13204G>A	XP_011529049.1:p.Gly4402Ser
XM_011530748.1:c.13204G>A	XP_011529050.1:p.Gly4402Ser
XM_011530749.1:c.13204G>A	XP_011529051.1:p.Gly4402Ser
XM_011530750.1:c.13204G>A	XP_011529052.1:p.Gly4402Ser
XM_011530751.1:c.13204G>A	XP_011529053.1:p.Gly4402Ser
XM_011530752.1:c.13201G>A	XP_011529054.1:p.Gly4401Ser
XM_011530753.1:c.13159G>A	XP_011529055.1:p.Gly4387Ser
XM_011530754.1:c.13156G>A	XP_011529056.1:p.Gly4386Ser
XM_011530755.1:c.13153G>A	XP_011529057.1:p.Gly4385Ser
XM_011530756.1:c.13105G>A	XP_011529058.1:p.Gly4369Ser
XM_011530757.1:c.12802G>A	XP_011529059.1:p.Gly4268Ser
XM_005261965.4:c.12955G>A	XP_005262022.1:p.Gly4319Ser
XM_011530751.2:c.13204G>A	XP_011529053.1:p.Gly4402Ser
XM_017029191.1:c.13336G>A	XP_016884680.1:p.Gly4446Ser
XM_017029192.1:c.13333G>A	XP_016884681.1:p.Gly4445Ser
XM_017029193.1:c.13315G>A	XP_016884682.1:p.Gly4439Ser
XM_017029194.1:c.13291G>A	XP_016884683.1:p.Gly4431Ser
XM_017029195.1:c.13288G>A	XP_016884684.1:p.Gly4430Ser
XM_017029196.1:c.13285G>A	XP_016884685.1:p.Gly4429Ser
XM_017029197.1:c.13237G>A	XP_016884686.1:p.Gly4413Ser
XM_017029198.2:c.13225G>A	XP_016884687.1:p.Gly4409Ser
XM_017029199.1:c.13225G>A	XP_016884688.1:p.Gly4409Ser
XM_017029200.1:c.13225G>A	XP_016884689.1:p.Gly4409Ser
XM_017029201.1:c.13225G>A	XP_016884690.1:p.Gly4409Ser
XM_017029202.1:c.13225G>A	XP_016884691.1:p.Gly4409Ser
XM_017029203.1:c.13225G>A	XP_016884692.1:p.Gly4409Ser
XM_017029204.1:c.13087G>A	XP_016884693.1:p.Gly4363Ser
XM_017029206.1:c.12934G>A	XP_016884695.1:p.Gly4312Ser
XM_024452322.1:c.13204G>A	XP_024308090.1:p.Gly4402Ser
NM_031407.7:c.12955G>A MANE Select	NP_113584.3:p.Gly4319Ser