Canonical Allele Identifier: CA413145336

Gene: HUWE1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12638T>C	ENSP00000515693.1:p.Leu4213Ser
ENST00000262854.11:c.12854T>C MANE Select	ENSP00000262854.6:p.Leu4285Ser
ENST00000262854.10:c.12854T>C	ENSP00000262854.6:p.Leu4285Ser
ENST00000342160.7:c.12854T>C	ENSP00000340648.3:p.Leu4285Ser
ENST00000426907.5:c.3321T>C
ENST00000488459.1:n.167T>C
ENST00000612484.4:c.12827T>C	ENSP00000479451.1:p.Leu4276Ser
NM_031407.6:c.12854T>C	NP_113584.3:p.Leu4285Ser
XM_005261965.2:c.12854T>C	XP_005262022.1:p.Leu4285Ser
XM_011530746.1:c.13103T>C	XP_011529048.1:p.Leu4368Ser
XM_011530747.1:c.13103T>C	XP_011529049.1:p.Leu4368Ser
XM_011530748.1:c.13103T>C	XP_011529050.1:p.Leu4368Ser
XM_011530749.1:c.13103T>C	XP_011529051.1:p.Leu4368Ser
XM_011530750.1:c.13103T>C	XP_011529052.1:p.Leu4368Ser
XM_011530751.1:c.13103T>C	XP_011529053.1:p.Leu4368Ser
XM_011530752.1:c.13100T>C	XP_011529054.1:p.Leu4367Ser
XM_011530753.1:c.13058T>C	XP_011529055.1:p.Leu4353Ser
XM_011530754.1:c.13055T>C	XP_011529056.1:p.Leu4352Ser
XM_011530755.1:c.13052T>C	XP_011529057.1:p.Leu4351Ser
XM_011530756.1:c.13004T>C	XP_011529058.1:p.Leu4335Ser
XM_011530757.1:c.12701T>C	XP_011529059.1:p.Leu4234Ser
XM_005261965.4:c.12854T>C	XP_005262022.1:p.Leu4285Ser
XM_011530751.2:c.13103T>C	XP_011529053.1:p.Leu4368Ser
XM_017029191.1:c.13235T>C	XP_016884680.1:p.Leu4412Ser
XM_017029192.1:c.13232T>C	XP_016884681.1:p.Leu4411Ser
XM_017029193.1:c.13214T>C	XP_016884682.1:p.Leu4405Ser
XM_017029194.1:c.13190T>C	XP_016884683.1:p.Leu4397Ser
XM_017029195.1:c.13187T>C	XP_016884684.1:p.Leu4396Ser
XM_017029196.1:c.13184T>C	XP_016884685.1:p.Leu4395Ser
XM_017029197.1:c.13136T>C	XP_016884686.1:p.Leu4379Ser
XM_017029198.2:c.13124T>C	XP_016884687.1:p.Leu4375Ser
XM_017029199.1:c.13124T>C	XP_016884688.1:p.Leu4375Ser
XM_017029200.1:c.13124T>C	XP_016884689.1:p.Leu4375Ser
XM_017029201.1:c.13124T>C	XP_016884690.1:p.Leu4375Ser
XM_017029202.1:c.13124T>C	XP_016884691.1:p.Leu4375Ser
XM_017029203.1:c.13124T>C	XP_016884692.1:p.Leu4375Ser
XM_017029204.1:c.12986T>C	XP_016884693.1:p.Leu4329Ser
XM_017029206.1:c.12833T>C	XP_016884695.1:p.Leu4278Ser
XM_024452322.1:c.13103T>C	XP_024308090.1:p.Leu4368Ser
NM_031407.7:c.12854T>C MANE Select	NP_113584.3:p.Leu4285Ser