Canonical Allele Identifier: CA413144399

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561065G>T (hg19) ; chrX:g.53534104G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534104G>T , CM000685.2:g.53534104G>T	GRCh38
NC_000023.10:g.53561065G>T , CM000685.1:g.53561065G>T	GRCh37
NC_000023.9:g.53577790G>T	NCBI36
NG_016261.2:g.157630C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12709C>A	ENSP00000515693.1:p.Gln4237Lys
ENST00000262854.11:c.12925C>A MANE Select	ENSP00000262854.6:p.Gln4309Lys
ENST00000262854.10:c.12925C>A	ENSP00000262854.6:p.Gln4309Lys
ENST00000342160.7:c.12925C>A	ENSP00000340648.3:p.Gln4309Lys
ENST00000426907.5:c.3392C>A
ENST00000488459.1:n.238C>A
ENST00000612484.4:c.12898C>A	ENSP00000479451.1:p.Gln4300Lys
NM_031407.6:c.12925C>A	NP_113584.3:p.Gln4309Lys
XM_005261965.2:c.12925C>A	XP_005262022.1:p.Gln4309Lys
XM_011530746.1:c.13174C>A	XP_011529048.1:p.Gln4392Lys
XM_011530747.1:c.13174C>A	XP_011529049.1:p.Gln4392Lys
XM_011530748.1:c.13174C>A	XP_011529050.1:p.Gln4392Lys
XM_011530749.1:c.13174C>A	XP_011529051.1:p.Gln4392Lys
XM_011530750.1:c.13174C>A	XP_011529052.1:p.Gln4392Lys
XM_011530751.1:c.13174C>A	XP_011529053.1:p.Gln4392Lys
XM_011530752.1:c.13171C>A	XP_011529054.1:p.Gln4391Lys
XM_011530753.1:c.13129C>A	XP_011529055.1:p.Gln4377Lys
XM_011530754.1:c.13126C>A	XP_011529056.1:p.Gln4376Lys
XM_011530755.1:c.13123C>A	XP_011529057.1:p.Gln4375Lys
XM_011530756.1:c.13075C>A	XP_011529058.1:p.Gln4359Lys
XM_011530757.1:c.12772C>A	XP_011529059.1:p.Gln4258Lys
XM_005261965.4:c.12925C>A	XP_005262022.1:p.Gln4309Lys
XM_011530751.2:c.13174C>A	XP_011529053.1:p.Gln4392Lys
XM_017029191.1:c.13306C>A	XP_016884680.1:p.Gln4436Lys
XM_017029192.1:c.13303C>A	XP_016884681.1:p.Gln4435Lys
XM_017029193.1:c.13285C>A	XP_016884682.1:p.Gln4429Lys
XM_017029194.1:c.13261C>A	XP_016884683.1:p.Gln4421Lys
XM_017029195.1:c.13258C>A	XP_016884684.1:p.Gln4420Lys
XM_017029196.1:c.13255C>A	XP_016884685.1:p.Gln4419Lys
XM_017029197.1:c.13207C>A	XP_016884686.1:p.Gln4403Lys
XM_017029198.2:c.13195C>A	XP_016884687.1:p.Gln4399Lys
XM_017029199.1:c.13195C>A	XP_016884688.1:p.Gln4399Lys
XM_017029200.1:c.13195C>A	XP_016884689.1:p.Gln4399Lys
XM_017029201.1:c.13195C>A	XP_016884690.1:p.Gln4399Lys
XM_017029202.1:c.13195C>A	XP_016884691.1:p.Gln4399Lys
XM_017029203.1:c.13195C>A	XP_016884692.1:p.Gln4399Lys
XM_017029204.1:c.13057C>A	XP_016884693.1:p.Gln4353Lys
XM_017029206.1:c.12904C>A	XP_016884695.1:p.Gln4302Lys
XM_024452322.1:c.13174C>A	XP_024308090.1:p.Gln4392Lys
NM_031407.7:c.12925C>A MANE Select	NP_113584.3:p.Gln4309Lys