Canonical Allele Identifier: CA516420268

Gene: HUWE1

Linked Data

• dbSNP Id: rs1468115192
• gnomAD v3: X-53534537-C-T
• gnomAD v4: X-53534537-C-T
• MyVariant Identifiers: chrX:g.53561498C>T (hg19) ; chrX:g.53534537C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534537C>T , CM000685.2:g.53534537C>T	GRCh38
NC_000023.10:g.53561498C>T , CM000685.1:g.53561498C>T	GRCh37
NC_000023.9:g.53578223C>T	NCBI36
NG_016261.2:g.157197G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12594G>A	ENSP00000515693.1:p.Lys4198=
ENST00000262854.11:c.12810G>A MANE Select	ENSP00000262854.6:p.Lys4270=
ENST00000262854.10:c.12810G>A	ENSP00000262854.6:p.Lys4270=
ENST00000342160.7:c.12810G>A	ENSP00000340648.3:p.Lys4270=
ENST00000426907.5:c.3277G>A
ENST00000488459.1:n.123G>A
ENST00000612484.4:c.12783G>A	ENSP00000479451.1:p.Lys4261=
NM_031407.6:c.12810G>A	NP_113584.3:p.Lys4270=
XM_005261965.2:c.12810G>A	XP_005262022.1:p.Lys4270=
XM_011530746.1:c.13059G>A	XP_011529048.1:p.Lys4353=
XM_011530747.1:c.13059G>A	XP_011529049.1:p.Lys4353=
XM_011530748.1:c.13059G>A	XP_011529050.1:p.Lys4353=
XM_011530749.1:c.13059G>A	XP_011529051.1:p.Lys4353=
XM_011530750.1:c.13059G>A	XP_011529052.1:p.Lys4353=
XM_011530751.1:c.13059G>A	XP_011529053.1:p.Lys4353=
XM_011530752.1:c.13056G>A	XP_011529054.1:p.Lys4352=
XM_011530753.1:c.13014G>A	XP_011529055.1:p.Lys4338=
XM_011530754.1:c.13011G>A	XP_011529056.1:p.Lys4337=
XM_011530755.1:c.13008G>A	XP_011529057.1:p.Lys4336=
XM_011530756.1:c.12960G>A	XP_011529058.1:p.Lys4320=
XM_011530757.1:c.12657G>A	XP_011529059.1:p.Lys4219=
XM_005261965.4:c.12810G>A	XP_005262022.1:p.Lys4270=
XM_011530751.2:c.13059G>A	XP_011529053.1:p.Lys4353=
XM_017029191.1:c.13191G>A	XP_016884680.1:p.Lys4397=
XM_017029192.1:c.13188G>A	XP_016884681.1:p.Lys4396=
XM_017029193.1:c.13170G>A	XP_016884682.1:p.Lys4390=
XM_017029194.1:c.13146G>A	XP_016884683.1:p.Lys4382=
XM_017029195.1:c.13143G>A	XP_016884684.1:p.Lys4381=
XM_017029196.1:c.13140G>A	XP_016884685.1:p.Lys4380=
XM_017029197.1:c.13092G>A	XP_016884686.1:p.Lys4364=
XM_017029198.2:c.13080G>A	XP_016884687.1:p.Lys4360=
XM_017029199.1:c.13080G>A	XP_016884688.1:p.Lys4360=
XM_017029200.1:c.13080G>A	XP_016884689.1:p.Lys4360=
XM_017029201.1:c.13080G>A	XP_016884690.1:p.Lys4360=
XM_017029202.1:c.13080G>A	XP_016884691.1:p.Lys4360=
XM_017029203.1:c.13080G>A	XP_016884692.1:p.Lys4360=
XM_017029204.1:c.12942G>A	XP_016884693.1:p.Lys4314=
XM_017029206.1:c.12789G>A	XP_016884695.1:p.Lys4263=
XM_024452322.1:c.13059G>A	XP_024308090.1:p.Lys4353=
NM_031407.7:c.12810G>A MANE Select	NP_113584.3:p.Lys4270=