Canonical Allele Identifier: CA10421284

Gene: HUWE1

Linked Data

• dbSNP Id: rs782447087
• ExAC: X:53564636 C / T
• gnomAD v2: X-53564636-C-T
• gnomAD v4: X-53537675-C-T
• MyVariant Identifiers: chrX:g.53564636C>T (hg19) ; chrX:g.53537675C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537675C>T , CM000685.2:g.53537675C>T	GRCh38
NC_000023.10:g.53564636C>T , CM000685.1:g.53564636C>T	GRCh37
NC_000023.9:g.53581361C>T	NCBI36
NG_016261.2:g.154059G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11802G>A	ENSP00000515693.1:p.Glu3934=
ENST00000262854.11:c.12018G>A MANE Select	ENSP00000262854.6:p.Glu4006=
ENST00000262854.10:c.12018G>A	ENSP00000262854.6:p.Glu4006=
ENST00000342160.7:c.12018G>A	ENSP00000340648.3:p.Glu4006=
ENST00000426907.5:c.2485G>A
ENST00000480438.1:n.153G>A
ENST00000612484.4:c.11991G>A	ENSP00000479451.1:p.Glu3997=
NM_031407.6:c.12018G>A	NP_113584.3:p.Glu4006=
XM_005261965.2:c.12018G>A	XP_005262022.1:p.Glu4006=
XM_011530746.1:c.12267G>A	XP_011529048.1:p.Glu4089=
XM_011530747.1:c.12267G>A	XP_011529049.1:p.Glu4089=
XM_011530748.1:c.12267G>A	XP_011529050.1:p.Glu4089=
XM_011530749.1:c.12267G>A	XP_011529051.1:p.Glu4089=
XM_011530750.1:c.12267G>A	XP_011529052.1:p.Glu4089=
XM_011530751.1:c.12267G>A	XP_011529053.1:p.Glu4089=
XM_011530752.1:c.12264G>A	XP_011529054.1:p.Glu4088=
XM_011530753.1:c.12222G>A	XP_011529055.1:p.Glu4074=
XM_011530754.1:c.12219G>A	XP_011529056.1:p.Glu4073=
XM_011530755.1:c.12216G>A	XP_011529057.1:p.Glu4072=
XM_011530756.1:c.12168G>A	XP_011529058.1:p.Glu4056=
XM_011530757.1:c.11865G>A	XP_011529059.1:p.Glu3955=
XM_005261965.4:c.12018G>A	XP_005262022.1:p.Glu4006=
XM_011530751.2:c.12267G>A	XP_011529053.1:p.Glu4089=
XM_017029191.1:c.12399G>A	XP_016884680.1:p.Glu4133=
XM_017029192.1:c.12396G>A	XP_016884681.1:p.Glu4132=
XM_017029193.1:c.12378G>A	XP_016884682.1:p.Glu4126=
XM_017029194.1:c.12354G>A	XP_016884683.1:p.Glu4118=
XM_017029195.1:c.12351G>A	XP_016884684.1:p.Glu4117=
XM_017029196.1:c.12348G>A	XP_016884685.1:p.Glu4116=
XM_017029197.1:c.12300G>A	XP_016884686.1:p.Glu4100=
XM_017029198.2:c.12288G>A	XP_016884687.1:p.Glu4096=
XM_017029199.1:c.12288G>A	XP_016884688.1:p.Glu4096=
XM_017029200.1:c.12288G>A	XP_016884689.1:p.Glu4096=
XM_017029201.1:c.12288G>A	XP_016884690.1:p.Glu4096=
XM_017029202.1:c.12288G>A	XP_016884691.1:p.Glu4096=
XM_017029203.1:c.12288G>A	XP_016884692.1:p.Glu4096=
XM_017029204.1:c.12150G>A	XP_016884693.1:p.Glu4050=
XM_017029206.1:c.11997G>A	XP_016884695.1:p.Glu3999=
XM_024452322.1:c.12267G>A	XP_024308090.1:p.Glu4089=
NM_031407.7:c.12018G>A MANE Select	NP_113584.3:p.Glu4006=