Canonical Allele Identifier: CA413155924

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53564630T>G (hg19) ; chrX:g.53537669T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537669T>G , CM000685.2:g.53537669T>G	GRCh38
NC_000023.10:g.53564630T>G , CM000685.1:g.53564630T>G	GRCh37
NC_000023.9:g.53581355T>G	NCBI36
NG_016261.2:g.154065A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11808A>C	ENSP00000515693.1:p.Leu3936Phe
ENST00000262854.11:c.12024A>C MANE Select	ENSP00000262854.6:p.Leu4008Phe
ENST00000262854.10:c.12024A>C	ENSP00000262854.6:p.Leu4008Phe
ENST00000342160.7:c.12024A>C	ENSP00000340648.3:p.Leu4008Phe
ENST00000426907.5:c.2491A>C
ENST00000480438.1:n.159A>C
ENST00000612484.4:c.11997A>C	ENSP00000479451.1:p.Leu3999Phe
NM_031407.6:c.12024A>C	NP_113584.3:p.Leu4008Phe
XM_005261965.2:c.12024A>C	XP_005262022.1:p.Leu4008Phe
XM_011530746.1:c.12273A>C	XP_011529048.1:p.Leu4091Phe
XM_011530747.1:c.12273A>C	XP_011529049.1:p.Leu4091Phe
XM_011530748.1:c.12273A>C	XP_011529050.1:p.Leu4091Phe
XM_011530749.1:c.12273A>C	XP_011529051.1:p.Leu4091Phe
XM_011530750.1:c.12273A>C	XP_011529052.1:p.Leu4091Phe
XM_011530751.1:c.12273A>C	XP_011529053.1:p.Leu4091Phe
XM_011530752.1:c.12270A>C	XP_011529054.1:p.Leu4090Phe
XM_011530753.1:c.12228A>C	XP_011529055.1:p.Leu4076Phe
XM_011530754.1:c.12225A>C	XP_011529056.1:p.Leu4075Phe
XM_011530755.1:c.12222A>C	XP_011529057.1:p.Leu4074Phe
XM_011530756.1:c.12174A>C	XP_011529058.1:p.Leu4058Phe
XM_011530757.1:c.11871A>C	XP_011529059.1:p.Leu3957Phe
XM_005261965.4:c.12024A>C	XP_005262022.1:p.Leu4008Phe
XM_011530751.2:c.12273A>C	XP_011529053.1:p.Leu4091Phe
XM_017029191.1:c.12405A>C	XP_016884680.1:p.Leu4135Phe
XM_017029192.1:c.12402A>C	XP_016884681.1:p.Leu4134Phe
XM_017029193.1:c.12384A>C	XP_016884682.1:p.Leu4128Phe
XM_017029194.1:c.12360A>C	XP_016884683.1:p.Leu4120Phe
XM_017029195.1:c.12357A>C	XP_016884684.1:p.Leu4119Phe
XM_017029196.1:c.12354A>C	XP_016884685.1:p.Leu4118Phe
XM_017029197.1:c.12306A>C	XP_016884686.1:p.Leu4102Phe
XM_017029198.2:c.12294A>C	XP_016884687.1:p.Leu4098Phe
XM_017029199.1:c.12294A>C	XP_016884688.1:p.Leu4098Phe
XM_017029200.1:c.12294A>C	XP_016884689.1:p.Leu4098Phe
XM_017029201.1:c.12294A>C	XP_016884690.1:p.Leu4098Phe
XM_017029202.1:c.12294A>C	XP_016884691.1:p.Leu4098Phe
XM_017029203.1:c.12294A>C	XP_016884692.1:p.Leu4098Phe
XM_017029204.1:c.12156A>C	XP_016884693.1:p.Leu4052Phe
XM_017029206.1:c.12003A>C	XP_016884695.1:p.Leu4001Phe
XM_024452322.1:c.12273A>C	XP_024308090.1:p.Leu4091Phe
NM_031407.7:c.12024A>C MANE Select	NP_113584.3:p.Leu4008Phe