Canonical Allele Identifier: CA10421119

Gene: HUWE1

Linked Data

• ClinVar Variation Id: 1338937
• ClinVar RCV Id: RCV001823391
• dbSNP Id: rs782290958
• ExAC: X:53561133 C / T
• gnomAD v2: X-53561133-C-T
• gnomAD v4: X-53534172-C-T
• MyVariant Identifiers: chrX:g.53561133C>T (hg19) ; chrX:g.53534172C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534172C>T , CM000685.2:g.53534172C>T	GRCh38
NC_000023.10:g.53561133C>T , CM000685.1:g.53561133C>T	GRCh37
NC_000023.9:g.53577858C>T	NCBI36
NG_016261.2:g.157562G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12641G>A	ENSP00000515693.1:p.Arg4214His
ENST00000262854.11:c.12857G>A MANE Select	ENSP00000262854.6:p.Arg4286His
ENST00000262854.10:c.12857G>A	ENSP00000262854.6:p.Arg4286His
ENST00000342160.7:c.12857G>A	ENSP00000340648.3:p.Arg4286His
ENST00000426907.5:c.3324G>A
ENST00000488459.1:n.170G>A
ENST00000612484.4:c.12830G>A	ENSP00000479451.1:p.Arg4277His
NM_031407.6:c.12857G>A	NP_113584.3:p.Arg4286His
XM_005261965.2:c.12857G>A	XP_005262022.1:p.Arg4286His
XM_011530746.1:c.13106G>A	XP_011529048.1:p.Arg4369His
XM_011530747.1:c.13106G>A	XP_011529049.1:p.Arg4369His
XM_011530748.1:c.13106G>A	XP_011529050.1:p.Arg4369His
XM_011530749.1:c.13106G>A	XP_011529051.1:p.Arg4369His
XM_011530750.1:c.13106G>A	XP_011529052.1:p.Arg4369His
XM_011530751.1:c.13106G>A	XP_011529053.1:p.Arg4369His
XM_011530752.1:c.13103G>A	XP_011529054.1:p.Arg4368His
XM_011530753.1:c.13061G>A	XP_011529055.1:p.Arg4354His
XM_011530754.1:c.13058G>A	XP_011529056.1:p.Arg4353His
XM_011530755.1:c.13055G>A	XP_011529057.1:p.Arg4352His
XM_011530756.1:c.13007G>A	XP_011529058.1:p.Arg4336His
XM_011530757.1:c.12704G>A	XP_011529059.1:p.Arg4235His
XM_005261965.4:c.12857G>A	XP_005262022.1:p.Arg4286His
XM_011530751.2:c.13106G>A	XP_011529053.1:p.Arg4369His
XM_017029191.1:c.13238G>A	XP_016884680.1:p.Arg4413His
XM_017029192.1:c.13235G>A	XP_016884681.1:p.Arg4412His
XM_017029193.1:c.13217G>A	XP_016884682.1:p.Arg4406His
XM_017029194.1:c.13193G>A	XP_016884683.1:p.Arg4398His
XM_017029195.1:c.13190G>A	XP_016884684.1:p.Arg4397His
XM_017029196.1:c.13187G>A	XP_016884685.1:p.Arg4396His
XM_017029197.1:c.13139G>A	XP_016884686.1:p.Arg4380His
XM_017029198.2:c.13127G>A	XP_016884687.1:p.Arg4376His
XM_017029199.1:c.13127G>A	XP_016884688.1:p.Arg4376His
XM_017029200.1:c.13127G>A	XP_016884689.1:p.Arg4376His
XM_017029201.1:c.13127G>A	XP_016884690.1:p.Arg4376His
XM_017029202.1:c.13127G>A	XP_016884691.1:p.Arg4376His
XM_017029203.1:c.13127G>A	XP_016884692.1:p.Arg4376His
XM_017029204.1:c.12989G>A	XP_016884693.1:p.Arg4330His
XM_017029206.1:c.12836G>A	XP_016884695.1:p.Arg4279His
XM_024452322.1:c.13106G>A	XP_024308090.1:p.Arg4369His
NM_031407.7:c.12857G>A MANE Select	NP_113584.3:p.Arg4286His