Canonical Allele Identifier: CA413155914

Gene: HUWE1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11809G>A	ENSP00000515693.1:p.Asp3937Asn
ENST00000262854.11:c.12025G>A MANE Select	ENSP00000262854.6:p.Asp4009Asn
ENST00000262854.10:c.12025G>A	ENSP00000262854.6:p.Asp4009Asn
ENST00000342160.7:c.12025G>A	ENSP00000340648.3:p.Asp4009Asn
ENST00000426907.5:c.2492G>A
ENST00000480438.1:n.160G>A
ENST00000612484.4:c.11998G>A	ENSP00000479451.1:p.Asp4000Asn
NM_031407.6:c.12025G>A	NP_113584.3:p.Asp4009Asn
XM_005261965.2:c.12025G>A	XP_005262022.1:p.Asp4009Asn
XM_011530746.1:c.12274G>A	XP_011529048.1:p.Asp4092Asn
XM_011530747.1:c.12274G>A	XP_011529049.1:p.Asp4092Asn
XM_011530748.1:c.12274G>A	XP_011529050.1:p.Asp4092Asn
XM_011530749.1:c.12274G>A	XP_011529051.1:p.Asp4092Asn
XM_011530750.1:c.12274G>A	XP_011529052.1:p.Asp4092Asn
XM_011530751.1:c.12274G>A	XP_011529053.1:p.Asp4092Asn
XM_011530752.1:c.12271G>A	XP_011529054.1:p.Asp4091Asn
XM_011530753.1:c.12229G>A	XP_011529055.1:p.Asp4077Asn
XM_011530754.1:c.12226G>A	XP_011529056.1:p.Asp4076Asn
XM_011530755.1:c.12223G>A	XP_011529057.1:p.Asp4075Asn
XM_011530756.1:c.12175G>A	XP_011529058.1:p.Asp4059Asn
XM_011530757.1:c.11872G>A	XP_011529059.1:p.Asp3958Asn
XM_005261965.4:c.12025G>A	XP_005262022.1:p.Asp4009Asn
XM_011530751.2:c.12274G>A	XP_011529053.1:p.Asp4092Asn
XM_017029191.1:c.12406G>A	XP_016884680.1:p.Asp4136Asn
XM_017029192.1:c.12403G>A	XP_016884681.1:p.Asp4135Asn
XM_017029193.1:c.12385G>A	XP_016884682.1:p.Asp4129Asn
XM_017029194.1:c.12361G>A	XP_016884683.1:p.Asp4121Asn
XM_017029195.1:c.12358G>A	XP_016884684.1:p.Asp4120Asn
XM_017029196.1:c.12355G>A	XP_016884685.1:p.Asp4119Asn
XM_017029197.1:c.12307G>A	XP_016884686.1:p.Asp4103Asn
XM_017029198.2:c.12295G>A	XP_016884687.1:p.Asp4099Asn
XM_017029199.1:c.12295G>A	XP_016884688.1:p.Asp4099Asn
XM_017029200.1:c.12295G>A	XP_016884689.1:p.Asp4099Asn
XM_017029201.1:c.12295G>A	XP_016884690.1:p.Asp4099Asn
XM_017029202.1:c.12295G>A	XP_016884691.1:p.Asp4099Asn
XM_017029203.1:c.12295G>A	XP_016884692.1:p.Asp4099Asn
XM_017029204.1:c.12157G>A	XP_016884693.1:p.Asp4053Asn
XM_017029206.1:c.12004G>A	XP_016884695.1:p.Asp4002Asn
XM_024452322.1:c.12274G>A	XP_024308090.1:p.Asp4092Asn
NM_031407.7:c.12025G>A MANE Select	NP_113584.3:p.Asp4009Asn