Canonical Allele Identifier: CA413152026

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53652183T>A (hg19) ; chrX:g.53625222T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53625222T>A , CM000685.2:g.53625222T>A	GRCh38
NC_000023.10:g.53652183T>A , CM000685.1:g.53652183T>A	GRCh37
NC_000023.9:g.53668908T>A	NCBI36
NG_016261.2:g.66512A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000704099.1:c.1526A>T	ENSP00000515693.1:p.Lys509Ile
ENST00000704100.1:c.1526A>T	ENSP00000515694.1:p.Lys509Ile
ENST00000262854.11:c.1526A>T MANE Select	ENSP00000262854.6:p.Lys509Ile
ENST00000218328.12:n.1928A>T
ENST00000262854.10:c.1526A>T	ENSP00000262854.6:p.Lys509Ile
ENST00000342160.7:c.1526A>T	ENSP00000340648.3:p.Lys509Ile
ENST00000489876.1:n.257A>T
ENST00000612484.4:c.1526A>T	ENSP00000479451.1:p.Lys509Ile
ENST00000622887.1:c.567A>T
NM_031407.6:c.1526A>T	NP_113584.3:p.Lys509Ile
XM_005261965.2:c.1526A>T	XP_005262022.1:p.Lys509Ile
XM_011530746.1:c.1775A>T	XP_011529048.1:p.Lys592Ile
XM_011530747.1:c.1775A>T	XP_011529049.1:p.Lys592Ile
XM_011530748.1:c.1775A>T	XP_011529050.1:p.Lys592Ile
XM_011530749.1:c.1775A>T	XP_011529051.1:p.Lys592Ile
XM_011530750.1:c.1775A>T	XP_011529052.1:p.Lys592Ile
XM_011530751.1:c.1775A>T	XP_011529053.1:p.Lys592Ile
XM_011530752.1:c.1775A>T	XP_011529054.1:p.Lys592Ile
XM_011530753.1:c.1775A>T	XP_011529055.1:p.Lys592Ile
XM_011530754.1:c.1775A>T	XP_011529056.1:p.Lys592Ile
XM_011530755.1:c.1775A>T	XP_011529057.1:p.Lys592Ile
XM_011530756.1:c.1775A>T	XP_011529058.1:p.Lys592Ile
XM_011530757.1:c.1775A>T	XP_011529059.1:p.Lys592Ile
XM_011530758.1:c.1775A>T	XP_011529060.1:p.Lys592Ile
XR_938360.1:n.2210A>T
XM_005261965.4:c.1526A>T	XP_005262022.1:p.Lys509Ile
XM_011530751.2:c.1775A>T	XP_011529053.1:p.Lys592Ile
XM_017029191.1:c.1907A>T	XP_016884680.1:p.Lys636Ile
XM_017029192.1:c.1907A>T	XP_016884681.1:p.Lys636Ile
XM_017029193.1:c.1886A>T	XP_016884682.1:p.Lys629Ile
XM_017029194.1:c.1907A>T	XP_016884683.1:p.Lys636Ile
XM_017029195.1:c.1907A>T	XP_016884684.1:p.Lys636Ile
XM_017029196.1:c.1907A>T	XP_016884685.1:p.Lys636Ile
XM_017029197.1:c.1907A>T	XP_016884686.1:p.Lys636Ile
XM_017029198.2:c.1796A>T	XP_016884687.1:p.Lys599Ile
XM_017029199.1:c.1796A>T	XP_016884688.1:p.Lys599Ile
XM_017029200.1:c.1796A>T	XP_016884689.1:p.Lys599Ile
XM_017029201.1:c.1796A>T	XP_016884690.1:p.Lys599Ile
XM_017029202.1:c.1796A>T	XP_016884691.1:p.Lys599Ile
XM_017029203.1:c.1796A>T	XP_016884692.1:p.Lys599Ile
XM_017029204.1:c.1658A>T	XP_016884693.1:p.Lys553Ile
XM_017029206.1:c.1907A>T	XP_016884695.1:p.Lys636Ile
XM_024452322.1:c.1775A>T	XP_024308090.1:p.Lys592Ile
NM_031407.7:c.1526A>T MANE Select	NP_113584.3:p.Lys509Ile