Canonical Allele Identifier: CA413145870

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561497A>T (hg19) ; chrX:g.53534536A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534536A>T , CM000685.2:g.53534536A>T	GRCh38
NC_000023.10:g.53561497A>T , CM000685.1:g.53561497A>T	GRCh37
NC_000023.9:g.53578222A>T	NCBI36
NG_016261.2:g.157198T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12595T>A	ENSP00000515693.1:p.Tyr4199Asn
ENST00000262854.11:c.12811T>A MANE Select	ENSP00000262854.6:p.Tyr4271Asn
ENST00000262854.10:c.12811T>A	ENSP00000262854.6:p.Tyr4271Asn
ENST00000342160.7:c.12811T>A	ENSP00000340648.3:p.Tyr4271Asn
ENST00000426907.5:c.3278T>A
ENST00000488459.1:n.124T>A
ENST00000612484.4:c.12784T>A	ENSP00000479451.1:p.Tyr4262Asn
NM_031407.6:c.12811T>A	NP_113584.3:p.Tyr4271Asn
XM_005261965.2:c.12811T>A	XP_005262022.1:p.Tyr4271Asn
XM_011530746.1:c.13060T>A	XP_011529048.1:p.Tyr4354Asn
XM_011530747.1:c.13060T>A	XP_011529049.1:p.Tyr4354Asn
XM_011530748.1:c.13060T>A	XP_011529050.1:p.Tyr4354Asn
XM_011530749.1:c.13060T>A	XP_011529051.1:p.Tyr4354Asn
XM_011530750.1:c.13060T>A	XP_011529052.1:p.Tyr4354Asn
XM_011530751.1:c.13060T>A	XP_011529053.1:p.Tyr4354Asn
XM_011530752.1:c.13057T>A	XP_011529054.1:p.Tyr4353Asn
XM_011530753.1:c.13015T>A	XP_011529055.1:p.Tyr4339Asn
XM_011530754.1:c.13012T>A	XP_011529056.1:p.Tyr4338Asn
XM_011530755.1:c.13009T>A	XP_011529057.1:p.Tyr4337Asn
XM_011530756.1:c.12961T>A	XP_011529058.1:p.Tyr4321Asn
XM_011530757.1:c.12658T>A	XP_011529059.1:p.Tyr4220Asn
XM_005261965.4:c.12811T>A	XP_005262022.1:p.Tyr4271Asn
XM_011530751.2:c.13060T>A	XP_011529053.1:p.Tyr4354Asn
XM_017029191.1:c.13192T>A	XP_016884680.1:p.Tyr4398Asn
XM_017029192.1:c.13189T>A	XP_016884681.1:p.Tyr4397Asn
XM_017029193.1:c.13171T>A	XP_016884682.1:p.Tyr4391Asn
XM_017029194.1:c.13147T>A	XP_016884683.1:p.Tyr4383Asn
XM_017029195.1:c.13144T>A	XP_016884684.1:p.Tyr4382Asn
XM_017029196.1:c.13141T>A	XP_016884685.1:p.Tyr4381Asn
XM_017029197.1:c.13093T>A	XP_016884686.1:p.Tyr4365Asn
XM_017029198.2:c.13081T>A	XP_016884687.1:p.Tyr4361Asn
XM_017029199.1:c.13081T>A	XP_016884688.1:p.Tyr4361Asn
XM_017029200.1:c.13081T>A	XP_016884689.1:p.Tyr4361Asn
XM_017029201.1:c.13081T>A	XP_016884690.1:p.Tyr4361Asn
XM_017029202.1:c.13081T>A	XP_016884691.1:p.Tyr4361Asn
XM_017029203.1:c.13081T>A	XP_016884692.1:p.Tyr4361Asn
XM_017029204.1:c.12943T>A	XP_016884693.1:p.Tyr4315Asn
XM_017029206.1:c.12790T>A	XP_016884695.1:p.Tyr4264Asn
XM_024452322.1:c.13060T>A	XP_024308090.1:p.Tyr4354Asn
NM_031407.7:c.12811T>A MANE Select	NP_113584.3:p.Tyr4271Asn