Canonical Allele Identifier: CA413145328

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561136A>C (hg19) ; chrX:g.53534175A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534175A>C , CM000685.2:g.53534175A>C	GRCh38
NC_000023.10:g.53561136A>C , CM000685.1:g.53561136A>C	GRCh37
NC_000023.9:g.53577861A>C	NCBI36
NG_016261.2:g.157559T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12638T>G	ENSP00000515693.1:p.Leu4213Trp
ENST00000262854.11:c.12854T>G MANE Select	ENSP00000262854.6:p.Leu4285Trp
ENST00000262854.10:c.12854T>G	ENSP00000262854.6:p.Leu4285Trp
ENST00000342160.7:c.12854T>G	ENSP00000340648.3:p.Leu4285Trp
ENST00000426907.5:c.3321T>G
ENST00000488459.1:n.167T>G
ENST00000612484.4:c.12827T>G	ENSP00000479451.1:p.Leu4276Trp
NM_031407.6:c.12854T>G	NP_113584.3:p.Leu4285Trp
XM_005261965.2:c.12854T>G	XP_005262022.1:p.Leu4285Trp
XM_011530746.1:c.13103T>G	XP_011529048.1:p.Leu4368Trp
XM_011530747.1:c.13103T>G	XP_011529049.1:p.Leu4368Trp
XM_011530748.1:c.13103T>G	XP_011529050.1:p.Leu4368Trp
XM_011530749.1:c.13103T>G	XP_011529051.1:p.Leu4368Trp
XM_011530750.1:c.13103T>G	XP_011529052.1:p.Leu4368Trp
XM_011530751.1:c.13103T>G	XP_011529053.1:p.Leu4368Trp
XM_011530752.1:c.13100T>G	XP_011529054.1:p.Leu4367Trp
XM_011530753.1:c.13058T>G	XP_011529055.1:p.Leu4353Trp
XM_011530754.1:c.13055T>G	XP_011529056.1:p.Leu4352Trp
XM_011530755.1:c.13052T>G	XP_011529057.1:p.Leu4351Trp
XM_011530756.1:c.13004T>G	XP_011529058.1:p.Leu4335Trp
XM_011530757.1:c.12701T>G	XP_011529059.1:p.Leu4234Trp
XM_005261965.4:c.12854T>G	XP_005262022.1:p.Leu4285Trp
XM_011530751.2:c.13103T>G	XP_011529053.1:p.Leu4368Trp
XM_017029191.1:c.13235T>G	XP_016884680.1:p.Leu4412Trp
XM_017029192.1:c.13232T>G	XP_016884681.1:p.Leu4411Trp
XM_017029193.1:c.13214T>G	XP_016884682.1:p.Leu4405Trp
XM_017029194.1:c.13190T>G	XP_016884683.1:p.Leu4397Trp
XM_017029195.1:c.13187T>G	XP_016884684.1:p.Leu4396Trp
XM_017029196.1:c.13184T>G	XP_016884685.1:p.Leu4395Trp
XM_017029197.1:c.13136T>G	XP_016884686.1:p.Leu4379Trp
XM_017029198.2:c.13124T>G	XP_016884687.1:p.Leu4375Trp
XM_017029199.1:c.13124T>G	XP_016884688.1:p.Leu4375Trp
XM_017029200.1:c.13124T>G	XP_016884689.1:p.Leu4375Trp
XM_017029201.1:c.13124T>G	XP_016884690.1:p.Leu4375Trp
XM_017029202.1:c.13124T>G	XP_016884691.1:p.Leu4375Trp
XM_017029203.1:c.13124T>G	XP_016884692.1:p.Leu4375Trp
XM_017029204.1:c.12986T>G	XP_016884693.1:p.Leu4329Trp
XM_017029206.1:c.12833T>G	XP_016884695.1:p.Leu4278Trp
XM_024452322.1:c.13103T>G	XP_024308090.1:p.Leu4368Trp
NM_031407.7:c.12854T>G MANE Select	NP_113584.3:p.Leu4285Trp