Canonical Allele Identifier: CA413143558

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53560980G>A (hg19) ; chrX:g.53534019G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534019G>A , CM000685.2:g.53534019G>A	GRCh38
NC_000023.10:g.53560980G>A , CM000685.1:g.53560980G>A	GRCh37
NC_000023.9:g.53577705G>A	NCBI36
NG_016261.2:g.157715C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12794C>T	ENSP00000515693.1:p.Ser4265Leu
ENST00000262854.11:c.13010C>T MANE Select	ENSP00000262854.6:p.Ser4337Leu
ENST00000262854.10:c.13010C>T	ENSP00000262854.6:p.Ser4337Leu
ENST00000342160.7:c.13010C>T	ENSP00000340648.3:p.Ser4337Leu
ENST00000426907.5:c.3477C>T
ENST00000488459.1:n.323C>T
ENST00000612484.4:c.12983C>T	ENSP00000479451.1:p.Ser4328Leu
NM_031407.6:c.13010C>T	NP_113584.3:p.Ser4337Leu
XM_005261965.2:c.13010C>T	XP_005262022.1:p.Ser4337Leu
XM_011530746.1:c.13259C>T	XP_011529048.1:p.Ser4420Leu
XM_011530747.1:c.13259C>T	XP_011529049.1:p.Ser4420Leu
XM_011530748.1:c.13259C>T	XP_011529050.1:p.Ser4420Leu
XM_011530749.1:c.13259C>T	XP_011529051.1:p.Ser4420Leu
XM_011530750.1:c.13259C>T	XP_011529052.1:p.Ser4420Leu
XM_011530751.1:c.13259C>T	XP_011529053.1:p.Ser4420Leu
XM_011530752.1:c.13256C>T	XP_011529054.1:p.Ser4419Leu
XM_011530753.1:c.13214C>T	XP_011529055.1:p.Ser4405Leu
XM_011530754.1:c.13211C>T	XP_011529056.1:p.Ser4404Leu
XM_011530755.1:c.13208C>T	XP_011529057.1:p.Ser4403Leu
XM_011530756.1:c.13160C>T	XP_011529058.1:p.Ser4387Leu
XM_011530757.1:c.12857C>T	XP_011529059.1:p.Ser4286Leu
XM_005261965.4:c.13010C>T	XP_005262022.1:p.Ser4337Leu
XM_011530751.2:c.13259C>T	XP_011529053.1:p.Ser4420Leu
XM_017029191.1:c.13391C>T	XP_016884680.1:p.Ser4464Leu
XM_017029192.1:c.13388C>T	XP_016884681.1:p.Ser4463Leu
XM_017029193.1:c.13370C>T	XP_016884682.1:p.Ser4457Leu
XM_017029194.1:c.13346C>T	XP_016884683.1:p.Ser4449Leu
XM_017029195.1:c.13343C>T	XP_016884684.1:p.Ser4448Leu
XM_017029196.1:c.13340C>T	XP_016884685.1:p.Ser4447Leu
XM_017029197.1:c.13292C>T	XP_016884686.1:p.Ser4431Leu
XM_017029198.2:c.13280C>T	XP_016884687.1:p.Ser4427Leu
XM_017029199.1:c.13280C>T	XP_016884688.1:p.Ser4427Leu
XM_017029200.1:c.13280C>T	XP_016884689.1:p.Ser4427Leu
XM_017029201.1:c.13280C>T	XP_016884690.1:p.Ser4427Leu
XM_017029202.1:c.13280C>T	XP_016884691.1:p.Ser4427Leu
XM_017029203.1:c.13280C>T	XP_016884692.1:p.Ser4427Leu
XM_017029204.1:c.13142C>T	XP_016884693.1:p.Ser4381Leu
XM_017029206.1:c.12989C>T	XP_016884695.1:p.Ser4330Leu
XM_024452322.1:c.13259C>T	XP_024308090.1:p.Ser4420Leu
NM_031407.7:c.13010C>T MANE Select	NP_113584.3:p.Ser4337Leu