Canonical Allele Identifier: CA413156128

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53564646T>A (hg19) ; chrX:g.53537685T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537685T>A , CM000685.2:g.53537685T>A	GRCh38
NC_000023.10:g.53564646T>A , CM000685.1:g.53564646T>A	GRCh37
NC_000023.9:g.53581371T>A	NCBI36
NG_016261.2:g.154049A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11792A>T	ENSP00000515693.1:p.Gln3931Leu
ENST00000262854.11:c.12008A>T MANE Select	ENSP00000262854.6:p.Gln4003Leu
ENST00000262854.10:c.12008A>T	ENSP00000262854.6:p.Gln4003Leu
ENST00000342160.7:c.12008A>T	ENSP00000340648.3:p.Gln4003Leu
ENST00000426907.5:c.2475A>T
ENST00000480438.1:n.143A>T
ENST00000612484.4:c.11981A>T	ENSP00000479451.1:p.Gln3994Leu
NM_031407.6:c.12008A>T	NP_113584.3:p.Gln4003Leu
XM_005261965.2:c.12008A>T	XP_005262022.1:p.Gln4003Leu
XM_011530746.1:c.12257A>T	XP_011529048.1:p.Gln4086Leu
XM_011530747.1:c.12257A>T	XP_011529049.1:p.Gln4086Leu
XM_011530748.1:c.12257A>T	XP_011529050.1:p.Gln4086Leu
XM_011530749.1:c.12257A>T	XP_011529051.1:p.Gln4086Leu
XM_011530750.1:c.12257A>T	XP_011529052.1:p.Gln4086Leu
XM_011530751.1:c.12257A>T	XP_011529053.1:p.Gln4086Leu
XM_011530752.1:c.12254A>T	XP_011529054.1:p.Gln4085Leu
XM_011530753.1:c.12212A>T	XP_011529055.1:p.Gln4071Leu
XM_011530754.1:c.12209A>T	XP_011529056.1:p.Gln4070Leu
XM_011530755.1:c.12206A>T	XP_011529057.1:p.Gln4069Leu
XM_011530756.1:c.12158A>T	XP_011529058.1:p.Gln4053Leu
XM_011530757.1:c.11855A>T	XP_011529059.1:p.Gln3952Leu
XM_005261965.4:c.12008A>T	XP_005262022.1:p.Gln4003Leu
XM_011530751.2:c.12257A>T	XP_011529053.1:p.Gln4086Leu
XM_017029191.1:c.12389A>T	XP_016884680.1:p.Gln4130Leu
XM_017029192.1:c.12386A>T	XP_016884681.1:p.Gln4129Leu
XM_017029193.1:c.12368A>T	XP_016884682.1:p.Gln4123Leu
XM_017029194.1:c.12344A>T	XP_016884683.1:p.Gln4115Leu
XM_017029195.1:c.12341A>T	XP_016884684.1:p.Gln4114Leu
XM_017029196.1:c.12338A>T	XP_016884685.1:p.Gln4113Leu
XM_017029197.1:c.12290A>T	XP_016884686.1:p.Gln4097Leu
XM_017029198.2:c.12278A>T	XP_016884687.1:p.Gln4093Leu
XM_017029199.1:c.12278A>T	XP_016884688.1:p.Gln4093Leu
XM_017029200.1:c.12278A>T	XP_016884689.1:p.Gln4093Leu
XM_017029201.1:c.12278A>T	XP_016884690.1:p.Gln4093Leu
XM_017029202.1:c.12278A>T	XP_016884691.1:p.Gln4093Leu
XM_017029203.1:c.12278A>T	XP_016884692.1:p.Gln4093Leu
XM_017029204.1:c.12140A>T	XP_016884693.1:p.Gln4047Leu
XM_017029206.1:c.11987A>T	XP_016884695.1:p.Gln3996Leu
XM_024452322.1:c.12257A>T	XP_024308090.1:p.Gln4086Leu
NM_031407.7:c.12008A>T MANE Select	NP_113584.3:p.Gln4003Leu