Canonical Allele Identifier: CA413145258

Gene: HUWE1

Linked Data

• COSMIC: COSM1123061 ; COSM1123062
• MyVariant Identifiers: chrX:g.53561130G>T (hg19) ; chrX:g.53534169G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534169G>T , CM000685.2:g.53534169G>T	GRCh38
NC_000023.10:g.53561130G>T , CM000685.1:g.53561130G>T	GRCh37
NC_000023.9:g.53577855G>T	NCBI36
NG_016261.2:g.157565C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12644C>A	ENSP00000515693.1:p.Ser4215Tyr
ENST00000262854.11:c.12860C>A MANE Select	ENSP00000262854.6:p.Ser4287Tyr
ENST00000262854.10:c.12860C>A	ENSP00000262854.6:p.Ser4287Tyr
ENST00000342160.7:c.12860C>A	ENSP00000340648.3:p.Ser4287Tyr
ENST00000426907.5:c.3327C>A
ENST00000488459.1:n.173C>A
ENST00000612484.4:c.12833C>A	ENSP00000479451.1:p.Ser4278Tyr
NM_031407.6:c.12860C>A	NP_113584.3:p.Ser4287Tyr
XM_005261965.2:c.12860C>A	XP_005262022.1:p.Ser4287Tyr
XM_011530746.1:c.13109C>A	XP_011529048.1:p.Ser4370Tyr
XM_011530747.1:c.13109C>A	XP_011529049.1:p.Ser4370Tyr
XM_011530748.1:c.13109C>A	XP_011529050.1:p.Ser4370Tyr
XM_011530749.1:c.13109C>A	XP_011529051.1:p.Ser4370Tyr
XM_011530750.1:c.13109C>A	XP_011529052.1:p.Ser4370Tyr
XM_011530751.1:c.13109C>A	XP_011529053.1:p.Ser4370Tyr
XM_011530752.1:c.13106C>A	XP_011529054.1:p.Ser4369Tyr
XM_011530753.1:c.13064C>A	XP_011529055.1:p.Ser4355Tyr
XM_011530754.1:c.13061C>A	XP_011529056.1:p.Ser4354Tyr
XM_011530755.1:c.13058C>A	XP_011529057.1:p.Ser4353Tyr
XM_011530756.1:c.13010C>A	XP_011529058.1:p.Ser4337Tyr
XM_011530757.1:c.12707C>A	XP_011529059.1:p.Ser4236Tyr
XM_005261965.4:c.12860C>A	XP_005262022.1:p.Ser4287Tyr
XM_011530751.2:c.13109C>A	XP_011529053.1:p.Ser4370Tyr
XM_017029191.1:c.13241C>A	XP_016884680.1:p.Ser4414Tyr
XM_017029192.1:c.13238C>A	XP_016884681.1:p.Ser4413Tyr
XM_017029193.1:c.13220C>A	XP_016884682.1:p.Ser4407Tyr
XM_017029194.1:c.13196C>A	XP_016884683.1:p.Ser4399Tyr
XM_017029195.1:c.13193C>A	XP_016884684.1:p.Ser4398Tyr
XM_017029196.1:c.13190C>A	XP_016884685.1:p.Ser4397Tyr
XM_017029197.1:c.13142C>A	XP_016884686.1:p.Ser4381Tyr
XM_017029198.2:c.13130C>A	XP_016884687.1:p.Ser4377Tyr
XM_017029199.1:c.13130C>A	XP_016884688.1:p.Ser4377Tyr
XM_017029200.1:c.13130C>A	XP_016884689.1:p.Ser4377Tyr
XM_017029201.1:c.13130C>A	XP_016884690.1:p.Ser4377Tyr
XM_017029202.1:c.13130C>A	XP_016884691.1:p.Ser4377Tyr
XM_017029203.1:c.13130C>A	XP_016884692.1:p.Ser4377Tyr
XM_017029204.1:c.12992C>A	XP_016884693.1:p.Ser4331Tyr
XM_017029206.1:c.12839C>A	XP_016884695.1:p.Ser4280Tyr
XM_024452322.1:c.13109C>A	XP_024308090.1:p.Ser4370Tyr
NM_031407.7:c.12860C>A MANE Select	NP_113584.3:p.Ser4287Tyr