Canonical Allele Identifier: CA413144846

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561101G>C (hg19) ; chrX:g.53534140G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534140G>C , CM000685.2:g.53534140G>C	GRCh38
NC_000023.10:g.53561101G>C , CM000685.1:g.53561101G>C	GRCh37
NC_000023.9:g.53577826G>C	NCBI36
NG_016261.2:g.157594C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12673C>G	ENSP00000515693.1:p.Leu4225Val
ENST00000262854.11:c.12889C>G MANE Select	ENSP00000262854.6:p.Leu4297Val
ENST00000262854.10:c.12889C>G	ENSP00000262854.6:p.Leu4297Val
ENST00000342160.7:c.12889C>G	ENSP00000340648.3:p.Leu4297Val
ENST00000426907.5:c.3356C>G
ENST00000488459.1:n.202C>G
ENST00000612484.4:c.12862C>G	ENSP00000479451.1:p.Leu4288Val
NM_031407.6:c.12889C>G	NP_113584.3:p.Leu4297Val
XM_005261965.2:c.12889C>G	XP_005262022.1:p.Leu4297Val
XM_011530746.1:c.13138C>G	XP_011529048.1:p.Leu4380Val
XM_011530747.1:c.13138C>G	XP_011529049.1:p.Leu4380Val
XM_011530748.1:c.13138C>G	XP_011529050.1:p.Leu4380Val
XM_011530749.1:c.13138C>G	XP_011529051.1:p.Leu4380Val
XM_011530750.1:c.13138C>G	XP_011529052.1:p.Leu4380Val
XM_011530751.1:c.13138C>G	XP_011529053.1:p.Leu4380Val
XM_011530752.1:c.13135C>G	XP_011529054.1:p.Leu4379Val
XM_011530753.1:c.13093C>G	XP_011529055.1:p.Leu4365Val
XM_011530754.1:c.13090C>G	XP_011529056.1:p.Leu4364Val
XM_011530755.1:c.13087C>G	XP_011529057.1:p.Leu4363Val
XM_011530756.1:c.13039C>G	XP_011529058.1:p.Leu4347Val
XM_011530757.1:c.12736C>G	XP_011529059.1:p.Leu4246Val
XM_005261965.4:c.12889C>G	XP_005262022.1:p.Leu4297Val
XM_011530751.2:c.13138C>G	XP_011529053.1:p.Leu4380Val
XM_017029191.1:c.13270C>G	XP_016884680.1:p.Leu4424Val
XM_017029192.1:c.13267C>G	XP_016884681.1:p.Leu4423Val
XM_017029193.1:c.13249C>G	XP_016884682.1:p.Leu4417Val
XM_017029194.1:c.13225C>G	XP_016884683.1:p.Leu4409Val
XM_017029195.1:c.13222C>G	XP_016884684.1:p.Leu4408Val
XM_017029196.1:c.13219C>G	XP_016884685.1:p.Leu4407Val
XM_017029197.1:c.13171C>G	XP_016884686.1:p.Leu4391Val
XM_017029198.2:c.13159C>G	XP_016884687.1:p.Leu4387Val
XM_017029199.1:c.13159C>G	XP_016884688.1:p.Leu4387Val
XM_017029200.1:c.13159C>G	XP_016884689.1:p.Leu4387Val
XM_017029201.1:c.13159C>G	XP_016884690.1:p.Leu4387Val
XM_017029202.1:c.13159C>G	XP_016884691.1:p.Leu4387Val
XM_017029203.1:c.13159C>G	XP_016884692.1:p.Leu4387Val
XM_017029204.1:c.13021C>G	XP_016884693.1:p.Leu4341Val
XM_017029206.1:c.12868C>G	XP_016884695.1:p.Leu4290Val
XM_024452322.1:c.13138C>G	XP_024308090.1:p.Leu4380Val
NM_031407.7:c.12889C>G MANE Select	NP_113584.3:p.Leu4297Val