Canonical Allele Identifier: CA413145368

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561139G>A (hg19) ; chrX:g.53534178G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534178G>A , CM000685.2:g.53534178G>A	GRCh38
NC_000023.10:g.53561139G>A , CM000685.1:g.53561139G>A	GRCh37
NC_000023.9:g.53577864G>A	NCBI36
NG_016261.2:g.157556C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12635C>T	ENSP00000515693.1:p.Ala4212Val
ENST00000262854.11:c.12851C>T MANE Select	ENSP00000262854.6:p.Ala4284Val
ENST00000262854.10:c.12851C>T	ENSP00000262854.6:p.Ala4284Val
ENST00000342160.7:c.12851C>T	ENSP00000340648.3:p.Ala4284Val
ENST00000426907.5:c.3318C>T
ENST00000488459.1:n.164C>T
ENST00000612484.4:c.12824C>T	ENSP00000479451.1:p.Ala4275Val
NM_031407.6:c.12851C>T	NP_113584.3:p.Ala4284Val
XM_005261965.2:c.12851C>T	XP_005262022.1:p.Ala4284Val
XM_011530746.1:c.13100C>T	XP_011529048.1:p.Ala4367Val
XM_011530747.1:c.13100C>T	XP_011529049.1:p.Ala4367Val
XM_011530748.1:c.13100C>T	XP_011529050.1:p.Ala4367Val
XM_011530749.1:c.13100C>T	XP_011529051.1:p.Ala4367Val
XM_011530750.1:c.13100C>T	XP_011529052.1:p.Ala4367Val
XM_011530751.1:c.13100C>T	XP_011529053.1:p.Ala4367Val
XM_011530752.1:c.13097C>T	XP_011529054.1:p.Ala4366Val
XM_011530753.1:c.13055C>T	XP_011529055.1:p.Ala4352Val
XM_011530754.1:c.13052C>T	XP_011529056.1:p.Ala4351Val
XM_011530755.1:c.13049C>T	XP_011529057.1:p.Ala4350Val
XM_011530756.1:c.13001C>T	XP_011529058.1:p.Ala4334Val
XM_011530757.1:c.12698C>T	XP_011529059.1:p.Ala4233Val
XM_005261965.4:c.12851C>T	XP_005262022.1:p.Ala4284Val
XM_011530751.2:c.13100C>T	XP_011529053.1:p.Ala4367Val
XM_017029191.1:c.13232C>T	XP_016884680.1:p.Ala4411Val
XM_017029192.1:c.13229C>T	XP_016884681.1:p.Ala4410Val
XM_017029193.1:c.13211C>T	XP_016884682.1:p.Ala4404Val
XM_017029194.1:c.13187C>T	XP_016884683.1:p.Ala4396Val
XM_017029195.1:c.13184C>T	XP_016884684.1:p.Ala4395Val
XM_017029196.1:c.13181C>T	XP_016884685.1:p.Ala4394Val
XM_017029197.1:c.13133C>T	XP_016884686.1:p.Ala4378Val
XM_017029198.2:c.13121C>T	XP_016884687.1:p.Ala4374Val
XM_017029199.1:c.13121C>T	XP_016884688.1:p.Ala4374Val
XM_017029200.1:c.13121C>T	XP_016884689.1:p.Ala4374Val
XM_017029201.1:c.13121C>T	XP_016884690.1:p.Ala4374Val
XM_017029202.1:c.13121C>T	XP_016884691.1:p.Ala4374Val
XM_017029203.1:c.13121C>T	XP_016884692.1:p.Ala4374Val
XM_017029204.1:c.12983C>T	XP_016884693.1:p.Ala4328Val
XM_017029206.1:c.12830C>T	XP_016884695.1:p.Ala4277Val
XM_024452322.1:c.13100C>T	XP_024308090.1:p.Ala4367Val
NM_031407.7:c.12851C>T MANE Select	NP_113584.3:p.Ala4284Val