Canonical Allele Identifier: CA413145773

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561479G>T (hg19) ; chrX:g.53534518G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534518G>T , CM000685.2:g.53534518G>T	GRCh38
NC_000023.10:g.53561479G>T , CM000685.1:g.53561479G>T	GRCh37
NC_000023.9:g.53578204G>T	NCBI36
NG_016261.2:g.157216C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12613C>A	ENSP00000515693.1:p.Gln4205Lys
ENST00000262854.11:c.12829C>A MANE Select	ENSP00000262854.6:p.Gln4277Lys
ENST00000262854.10:c.12829C>A	ENSP00000262854.6:p.Gln4277Lys
ENST00000342160.7:c.12829C>A	ENSP00000340648.3:p.Gln4277Lys
ENST00000426907.5:c.3296C>A
ENST00000488459.1:n.142C>A
ENST00000612484.4:c.12802C>A	ENSP00000479451.1:p.Gln4268Lys
NM_031407.6:c.12829C>A	NP_113584.3:p.Gln4277Lys
XM_005261965.2:c.12829C>A	XP_005262022.1:p.Gln4277Lys
XM_011530746.1:c.13078C>A	XP_011529048.1:p.Gln4360Lys
XM_011530747.1:c.13078C>A	XP_011529049.1:p.Gln4360Lys
XM_011530748.1:c.13078C>A	XP_011529050.1:p.Gln4360Lys
XM_011530749.1:c.13078C>A	XP_011529051.1:p.Gln4360Lys
XM_011530750.1:c.13078C>A	XP_011529052.1:p.Gln4360Lys
XM_011530751.1:c.13078C>A	XP_011529053.1:p.Gln4360Lys
XM_011530752.1:c.13075C>A	XP_011529054.1:p.Gln4359Lys
XM_011530753.1:c.13033C>A	XP_011529055.1:p.Gln4345Lys
XM_011530754.1:c.13030C>A	XP_011529056.1:p.Gln4344Lys
XM_011530755.1:c.13027C>A	XP_011529057.1:p.Gln4343Lys
XM_011530756.1:c.12979C>A	XP_011529058.1:p.Gln4327Lys
XM_011530757.1:c.12676C>A	XP_011529059.1:p.Gln4226Lys
XM_005261965.4:c.12829C>A	XP_005262022.1:p.Gln4277Lys
XM_011530751.2:c.13078C>A	XP_011529053.1:p.Gln4360Lys
XM_017029191.1:c.13210C>A	XP_016884680.1:p.Gln4404Lys
XM_017029192.1:c.13207C>A	XP_016884681.1:p.Gln4403Lys
XM_017029193.1:c.13189C>A	XP_016884682.1:p.Gln4397Lys
XM_017029194.1:c.13165C>A	XP_016884683.1:p.Gln4389Lys
XM_017029195.1:c.13162C>A	XP_016884684.1:p.Gln4388Lys
XM_017029196.1:c.13159C>A	XP_016884685.1:p.Gln4387Lys
XM_017029197.1:c.13111C>A	XP_016884686.1:p.Gln4371Lys
XM_017029198.2:c.13099C>A	XP_016884687.1:p.Gln4367Lys
XM_017029199.1:c.13099C>A	XP_016884688.1:p.Gln4367Lys
XM_017029200.1:c.13099C>A	XP_016884689.1:p.Gln4367Lys
XM_017029201.1:c.13099C>A	XP_016884690.1:p.Gln4367Lys
XM_017029202.1:c.13099C>A	XP_016884691.1:p.Gln4367Lys
XM_017029203.1:c.13099C>A	XP_016884692.1:p.Gln4367Lys
XM_017029204.1:c.12961C>A	XP_016884693.1:p.Gln4321Lys
XM_017029206.1:c.12808C>A	XP_016884695.1:p.Gln4270Lys
XM_024452322.1:c.13078C>A	XP_024308090.1:p.Gln4360Lys
NM_031407.7:c.12829C>A MANE Select	NP_113584.3:p.Gln4277Lys