Canonical Allele Identifier: CA413155909

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53564629C>A (hg19) ; chrX:g.53537668C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537668C>A , CM000685.2:g.53537668C>A	GRCh38
NC_000023.10:g.53564629C>A , CM000685.1:g.53564629C>A	GRCh37
NC_000023.9:g.53581354C>A	NCBI36
NG_016261.2:g.154066G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11809G>T	ENSP00000515693.1:p.Asp3937Tyr
ENST00000262854.11:c.12025G>T MANE Select	ENSP00000262854.6:p.Asp4009Tyr
ENST00000262854.10:c.12025G>T	ENSP00000262854.6:p.Asp4009Tyr
ENST00000342160.7:c.12025G>T	ENSP00000340648.3:p.Asp4009Tyr
ENST00000426907.5:c.2492G>T
ENST00000480438.1:n.160G>T
ENST00000612484.4:c.11998G>T	ENSP00000479451.1:p.Asp4000Tyr
NM_031407.6:c.12025G>T	NP_113584.3:p.Asp4009Tyr
XM_005261965.2:c.12025G>T	XP_005262022.1:p.Asp4009Tyr
XM_011530746.1:c.12274G>T	XP_011529048.1:p.Asp4092Tyr
XM_011530747.1:c.12274G>T	XP_011529049.1:p.Asp4092Tyr
XM_011530748.1:c.12274G>T	XP_011529050.1:p.Asp4092Tyr
XM_011530749.1:c.12274G>T	XP_011529051.1:p.Asp4092Tyr
XM_011530750.1:c.12274G>T	XP_011529052.1:p.Asp4092Tyr
XM_011530751.1:c.12274G>T	XP_011529053.1:p.Asp4092Tyr
XM_011530752.1:c.12271G>T	XP_011529054.1:p.Asp4091Tyr
XM_011530753.1:c.12229G>T	XP_011529055.1:p.Asp4077Tyr
XM_011530754.1:c.12226G>T	XP_011529056.1:p.Asp4076Tyr
XM_011530755.1:c.12223G>T	XP_011529057.1:p.Asp4075Tyr
XM_011530756.1:c.12175G>T	XP_011529058.1:p.Asp4059Tyr
XM_011530757.1:c.11872G>T	XP_011529059.1:p.Asp3958Tyr
XM_005261965.4:c.12025G>T	XP_005262022.1:p.Asp4009Tyr
XM_011530751.2:c.12274G>T	XP_011529053.1:p.Asp4092Tyr
XM_017029191.1:c.12406G>T	XP_016884680.1:p.Asp4136Tyr
XM_017029192.1:c.12403G>T	XP_016884681.1:p.Asp4135Tyr
XM_017029193.1:c.12385G>T	XP_016884682.1:p.Asp4129Tyr
XM_017029194.1:c.12361G>T	XP_016884683.1:p.Asp4121Tyr
XM_017029195.1:c.12358G>T	XP_016884684.1:p.Asp4120Tyr
XM_017029196.1:c.12355G>T	XP_016884685.1:p.Asp4119Tyr
XM_017029197.1:c.12307G>T	XP_016884686.1:p.Asp4103Tyr
XM_017029198.2:c.12295G>T	XP_016884687.1:p.Asp4099Tyr
XM_017029199.1:c.12295G>T	XP_016884688.1:p.Asp4099Tyr
XM_017029200.1:c.12295G>T	XP_016884689.1:p.Asp4099Tyr
XM_017029201.1:c.12295G>T	XP_016884690.1:p.Asp4099Tyr
XM_017029202.1:c.12295G>T	XP_016884691.1:p.Asp4099Tyr
XM_017029203.1:c.12295G>T	XP_016884692.1:p.Asp4099Tyr
XM_017029204.1:c.12157G>T	XP_016884693.1:p.Asp4053Tyr
XM_017029206.1:c.12004G>T	XP_016884695.1:p.Asp4002Tyr
XM_024452322.1:c.12274G>T	XP_024308090.1:p.Asp4092Tyr
NM_031407.7:c.12025G>T MANE Select	NP_113584.3:p.Asp4009Tyr