Canonical Allele Identifier: CA516420080

Gene: HUWE1

Linked Data

• gnomAD v4: X-53534195-G-T
• MyVariant Identifiers: chrX:g.53561156G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534195G>T , CM000685.2:g.53534195G>T	GRCh38
NC_000023.10:g.53561156G>T , CM000685.1:g.53561156G>T	GRCh37
NC_000023.9:g.53577881G>T	NCBI36
NG_016261.2:g.157539C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12618C>A	ENSP00000515693.1:p.Ile4206=
ENST00000262854.11:c.12834C>A MANE Select	ENSP00000262854.6:p.Ile4278=
ENST00000262854.10:c.12834C>A	ENSP00000262854.6:p.Ile4278=
ENST00000342160.7:c.12834C>A	ENSP00000340648.3:p.Ile4278=
ENST00000426907.5:c.3301C>A
ENST00000488459.1:n.147C>A
ENST00000612484.4:c.12807C>A	ENSP00000479451.1:p.Ile4269=
NM_031407.6:c.12834C>A	NP_113584.3:p.Ile4278=
XM_005261965.2:c.12834C>A	XP_005262022.1:p.Ile4278=
XM_011530746.1:c.13083C>A	XP_011529048.1:p.Ile4361=
XM_011530747.1:c.13083C>A	XP_011529049.1:p.Ile4361=
XM_011530748.1:c.13083C>A	XP_011529050.1:p.Ile4361=
XM_011530749.1:c.13083C>A	XP_011529051.1:p.Ile4361=
XM_011530750.1:c.13083C>A	XP_011529052.1:p.Ile4361=
XM_011530751.1:c.13083C>A	XP_011529053.1:p.Ile4361=
XM_011530752.1:c.13080C>A	XP_011529054.1:p.Ile4360=
XM_011530753.1:c.13038C>A	XP_011529055.1:p.Ile4346=
XM_011530754.1:c.13035C>A	XP_011529056.1:p.Ile4345=
XM_011530755.1:c.13032C>A	XP_011529057.1:p.Ile4344=
XM_011530756.1:c.12984C>A	XP_011529058.1:p.Ile4328=
XM_011530757.1:c.12681C>A	XP_011529059.1:p.Ile4227=
XM_005261965.4:c.12834C>A	XP_005262022.1:p.Ile4278=
XM_011530751.2:c.13083C>A	XP_011529053.1:p.Ile4361=
XM_017029191.1:c.13215C>A	XP_016884680.1:p.Ile4405=
XM_017029192.1:c.13212C>A	XP_016884681.1:p.Ile4404=
XM_017029193.1:c.13194C>A	XP_016884682.1:p.Ile4398=
XM_017029194.1:c.13170C>A	XP_016884683.1:p.Ile4390=
XM_017029195.1:c.13167C>A	XP_016884684.1:p.Ile4389=
XM_017029196.1:c.13164C>A	XP_016884685.1:p.Ile4388=
XM_017029197.1:c.13116C>A	XP_016884686.1:p.Ile4372=
XM_017029198.2:c.13104C>A	XP_016884687.1:p.Ile4368=
XM_017029199.1:c.13104C>A	XP_016884688.1:p.Ile4368=
XM_017029200.1:c.13104C>A	XP_016884689.1:p.Ile4368=
XM_017029201.1:c.13104C>A	XP_016884690.1:p.Ile4368=
XM_017029202.1:c.13104C>A	XP_016884691.1:p.Ile4368=
XM_017029203.1:c.13104C>A	XP_016884692.1:p.Ile4368=
XM_017029204.1:c.12966C>A	XP_016884693.1:p.Ile4322=
XM_017029206.1:c.12813C>A	XP_016884695.1:p.Ile4271=
XM_024452322.1:c.13083C>A	XP_024308090.1:p.Ile4361=
NM_031407.7:c.12834C>A MANE Select	NP_113584.3:p.Ile4278=