Canonical Allele Identifier: CA413146035

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561513G>C (hg19) ; chrX:g.53534552G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534552G>C , CM000685.2:g.53534552G>C	GRCh38
NC_000023.10:g.53561513G>C , CM000685.1:g.53561513G>C	GRCh37
NC_000023.9:g.53578238G>C	NCBI36
NG_016261.2:g.157182C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12579C>G	ENSP00000515693.1:p.Asn4193Lys
ENST00000262854.11:c.12795C>G MANE Select	ENSP00000262854.6:p.Asn4265Lys
ENST00000262854.10:c.12795C>G	ENSP00000262854.6:p.Asn4265Lys
ENST00000342160.7:c.12795C>G	ENSP00000340648.3:p.Asn4265Lys
ENST00000426907.5:c.3262C>G
ENST00000488459.1:n.108C>G
ENST00000612484.4:c.12768C>G	ENSP00000479451.1:p.Asn4256Lys
NM_031407.6:c.12795C>G	NP_113584.3:p.Asn4265Lys
XM_005261965.2:c.12795C>G	XP_005262022.1:p.Asn4265Lys
XM_011530746.1:c.13044C>G	XP_011529048.1:p.Asn4348Lys
XM_011530747.1:c.13044C>G	XP_011529049.1:p.Asn4348Lys
XM_011530748.1:c.13044C>G	XP_011529050.1:p.Asn4348Lys
XM_011530749.1:c.13044C>G	XP_011529051.1:p.Asn4348Lys
XM_011530750.1:c.13044C>G	XP_011529052.1:p.Asn4348Lys
XM_011530751.1:c.13044C>G	XP_011529053.1:p.Asn4348Lys
XM_011530752.1:c.13041C>G	XP_011529054.1:p.Asn4347Lys
XM_011530753.1:c.12999C>G	XP_011529055.1:p.Asn4333Lys
XM_011530754.1:c.12996C>G	XP_011529056.1:p.Asn4332Lys
XM_011530755.1:c.12993C>G	XP_011529057.1:p.Asn4331Lys
XM_011530756.1:c.12945C>G	XP_011529058.1:p.Asn4315Lys
XM_011530757.1:c.12642C>G	XP_011529059.1:p.Asn4214Lys
XM_005261965.4:c.12795C>G	XP_005262022.1:p.Asn4265Lys
XM_011530751.2:c.13044C>G	XP_011529053.1:p.Asn4348Lys
XM_017029191.1:c.13176C>G	XP_016884680.1:p.Asn4392Lys
XM_017029192.1:c.13173C>G	XP_016884681.1:p.Asn4391Lys
XM_017029193.1:c.13155C>G	XP_016884682.1:p.Asn4385Lys
XM_017029194.1:c.13131C>G	XP_016884683.1:p.Asn4377Lys
XM_017029195.1:c.13128C>G	XP_016884684.1:p.Asn4376Lys
XM_017029196.1:c.13125C>G	XP_016884685.1:p.Asn4375Lys
XM_017029197.1:c.13077C>G	XP_016884686.1:p.Asn4359Lys
XM_017029198.2:c.13065C>G	XP_016884687.1:p.Asn4355Lys
XM_017029199.1:c.13065C>G	XP_016884688.1:p.Asn4355Lys
XM_017029200.1:c.13065C>G	XP_016884689.1:p.Asn4355Lys
XM_017029201.1:c.13065C>G	XP_016884690.1:p.Asn4355Lys
XM_017029202.1:c.13065C>G	XP_016884691.1:p.Asn4355Lys
XM_017029203.1:c.13065C>G	XP_016884692.1:p.Asn4355Lys
XM_017029204.1:c.12927C>G	XP_016884693.1:p.Asn4309Lys
XM_017029206.1:c.12774C>G	XP_016884695.1:p.Asn4258Lys
XM_024452322.1:c.13044C>G	XP_024308090.1:p.Asn4348Lys
NM_031407.7:c.12795C>G MANE Select	NP_113584.3:p.Asn4265Lys