Canonical Allele Identifier: CA413145903

Gene: HUWE1

Linked Data

• gnomAD v4: X-53534541-T-C
• MyVariant Identifiers: chrX:g.53561502T>C (hg19) ; chrX:g.53534541T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534541T>C , CM000685.2:g.53534541T>C	GRCh38
NC_000023.10:g.53561502T>C , CM000685.1:g.53561502T>C	GRCh37
NC_000023.9:g.53578227T>C	NCBI36
NG_016261.2:g.157193A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12590A>G	ENSP00000515693.1:p.His4197Arg
ENST00000262854.11:c.12806A>G MANE Select	ENSP00000262854.6:p.His4269Arg
ENST00000262854.10:c.12806A>G	ENSP00000262854.6:p.His4269Arg
ENST00000342160.7:c.12806A>G	ENSP00000340648.3:p.His4269Arg
ENST00000426907.5:c.3273A>G
ENST00000488459.1:n.119A>G
ENST00000612484.4:c.12779A>G	ENSP00000479451.1:p.His4260Arg
NM_031407.6:c.12806A>G	NP_113584.3:p.His4269Arg
XM_005261965.2:c.12806A>G	XP_005262022.1:p.His4269Arg
XM_011530746.1:c.13055A>G	XP_011529048.1:p.His4352Arg
XM_011530747.1:c.13055A>G	XP_011529049.1:p.His4352Arg
XM_011530748.1:c.13055A>G	XP_011529050.1:p.His4352Arg
XM_011530749.1:c.13055A>G	XP_011529051.1:p.His4352Arg
XM_011530750.1:c.13055A>G	XP_011529052.1:p.His4352Arg
XM_011530751.1:c.13055A>G	XP_011529053.1:p.His4352Arg
XM_011530752.1:c.13052A>G	XP_011529054.1:p.His4351Arg
XM_011530753.1:c.13010A>G	XP_011529055.1:p.His4337Arg
XM_011530754.1:c.13007A>G	XP_011529056.1:p.His4336Arg
XM_011530755.1:c.13004A>G	XP_011529057.1:p.His4335Arg
XM_011530756.1:c.12956A>G	XP_011529058.1:p.His4319Arg
XM_011530757.1:c.12653A>G	XP_011529059.1:p.His4218Arg
XM_005261965.4:c.12806A>G	XP_005262022.1:p.His4269Arg
XM_011530751.2:c.13055A>G	XP_011529053.1:p.His4352Arg
XM_017029191.1:c.13187A>G	XP_016884680.1:p.His4396Arg
XM_017029192.1:c.13184A>G	XP_016884681.1:p.His4395Arg
XM_017029193.1:c.13166A>G	XP_016884682.1:p.His4389Arg
XM_017029194.1:c.13142A>G	XP_016884683.1:p.His4381Arg
XM_017029195.1:c.13139A>G	XP_016884684.1:p.His4380Arg
XM_017029196.1:c.13136A>G	XP_016884685.1:p.His4379Arg
XM_017029197.1:c.13088A>G	XP_016884686.1:p.His4363Arg
XM_017029198.2:c.13076A>G	XP_016884687.1:p.His4359Arg
XM_017029199.1:c.13076A>G	XP_016884688.1:p.His4359Arg
XM_017029200.1:c.13076A>G	XP_016884689.1:p.His4359Arg
XM_017029201.1:c.13076A>G	XP_016884690.1:p.His4359Arg
XM_017029202.1:c.13076A>G	XP_016884691.1:p.His4359Arg
XM_017029203.1:c.13076A>G	XP_016884692.1:p.His4359Arg
XM_017029204.1:c.12938A>G	XP_016884693.1:p.His4313Arg
XM_017029206.1:c.12785A>G	XP_016884695.1:p.His4262Arg
XM_024452322.1:c.13055A>G	XP_024308090.1:p.His4352Arg
NM_031407.7:c.12806A>G MANE Select	NP_113584.3:p.His4269Arg