Canonical Allele Identifier: CA413156122

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53564645T>A (hg19) ; chrX:g.53537684T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537684T>A , CM000685.2:g.53537684T>A	GRCh38
NC_000023.10:g.53564645T>A , CM000685.1:g.53564645T>A	GRCh37
NC_000023.9:g.53581370T>A	NCBI36
NG_016261.2:g.154050A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11793A>T	ENSP00000515693.1:p.Gln3931His
ENST00000262854.11:c.12009A>T MANE Select	ENSP00000262854.6:p.Gln4003His
ENST00000262854.10:c.12009A>T	ENSP00000262854.6:p.Gln4003His
ENST00000342160.7:c.12009A>T	ENSP00000340648.3:p.Gln4003His
ENST00000426907.5:c.2476A>T
ENST00000480438.1:n.144A>T
ENST00000612484.4:c.11982A>T	ENSP00000479451.1:p.Gln3994His
NM_031407.6:c.12009A>T	NP_113584.3:p.Gln4003His
XM_005261965.2:c.12009A>T	XP_005262022.1:p.Gln4003His
XM_011530746.1:c.12258A>T	XP_011529048.1:p.Gln4086His
XM_011530747.1:c.12258A>T	XP_011529049.1:p.Gln4086His
XM_011530748.1:c.12258A>T	XP_011529050.1:p.Gln4086His
XM_011530749.1:c.12258A>T	XP_011529051.1:p.Gln4086His
XM_011530750.1:c.12258A>T	XP_011529052.1:p.Gln4086His
XM_011530751.1:c.12258A>T	XP_011529053.1:p.Gln4086His
XM_011530752.1:c.12255A>T	XP_011529054.1:p.Gln4085His
XM_011530753.1:c.12213A>T	XP_011529055.1:p.Gln4071His
XM_011530754.1:c.12210A>T	XP_011529056.1:p.Gln4070His
XM_011530755.1:c.12207A>T	XP_011529057.1:p.Gln4069His
XM_011530756.1:c.12159A>T	XP_011529058.1:p.Gln4053His
XM_011530757.1:c.11856A>T	XP_011529059.1:p.Gln3952His
XM_005261965.4:c.12009A>T	XP_005262022.1:p.Gln4003His
XM_011530751.2:c.12258A>T	XP_011529053.1:p.Gln4086His
XM_017029191.1:c.12390A>T	XP_016884680.1:p.Gln4130His
XM_017029192.1:c.12387A>T	XP_016884681.1:p.Gln4129His
XM_017029193.1:c.12369A>T	XP_016884682.1:p.Gln4123His
XM_017029194.1:c.12345A>T	XP_016884683.1:p.Gln4115His
XM_017029195.1:c.12342A>T	XP_016884684.1:p.Gln4114His
XM_017029196.1:c.12339A>T	XP_016884685.1:p.Gln4113His
XM_017029197.1:c.12291A>T	XP_016884686.1:p.Gln4097His
XM_017029198.2:c.12279A>T	XP_016884687.1:p.Gln4093His
XM_017029199.1:c.12279A>T	XP_016884688.1:p.Gln4093His
XM_017029200.1:c.12279A>T	XP_016884689.1:p.Gln4093His
XM_017029201.1:c.12279A>T	XP_016884690.1:p.Gln4093His
XM_017029202.1:c.12279A>T	XP_016884691.1:p.Gln4093His
XM_017029203.1:c.12279A>T	XP_016884692.1:p.Gln4093His
XM_017029204.1:c.12141A>T	XP_016884693.1:p.Gln4047His
XM_017029206.1:c.11988A>T	XP_016884695.1:p.Gln3996His
XM_024452322.1:c.12258A>T	XP_024308090.1:p.Gln4086His
NM_031407.7:c.12009A>T MANE Select	NP_113584.3:p.Gln4003His