Canonical Allele Identifier: CA413145552

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561157A>C (hg19) ; chrX:g.53534196A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534196A>C , CM000685.2:g.53534196A>C	GRCh38
NC_000023.10:g.53561157A>C , CM000685.1:g.53561157A>C	GRCh37
NC_000023.9:g.53577882A>C	NCBI36
NG_016261.2:g.157538T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12617T>G	ENSP00000515693.1:p.Ile4206Ser
ENST00000262854.11:c.12833T>G MANE Select	ENSP00000262854.6:p.Ile4278Ser
ENST00000262854.10:c.12833T>G	ENSP00000262854.6:p.Ile4278Ser
ENST00000342160.7:c.12833T>G	ENSP00000340648.3:p.Ile4278Ser
ENST00000426907.5:c.3300T>G
ENST00000488459.1:n.146T>G
ENST00000612484.4:c.12806T>G	ENSP00000479451.1:p.Ile4269Ser
NM_031407.6:c.12833T>G	NP_113584.3:p.Ile4278Ser
XM_005261965.2:c.12833T>G	XP_005262022.1:p.Ile4278Ser
XM_011530746.1:c.13082T>G	XP_011529048.1:p.Ile4361Ser
XM_011530747.1:c.13082T>G	XP_011529049.1:p.Ile4361Ser
XM_011530748.1:c.13082T>G	XP_011529050.1:p.Ile4361Ser
XM_011530749.1:c.13082T>G	XP_011529051.1:p.Ile4361Ser
XM_011530750.1:c.13082T>G	XP_011529052.1:p.Ile4361Ser
XM_011530751.1:c.13082T>G	XP_011529053.1:p.Ile4361Ser
XM_011530752.1:c.13079T>G	XP_011529054.1:p.Ile4360Ser
XM_011530753.1:c.13037T>G	XP_011529055.1:p.Ile4346Ser
XM_011530754.1:c.13034T>G	XP_011529056.1:p.Ile4345Ser
XM_011530755.1:c.13031T>G	XP_011529057.1:p.Ile4344Ser
XM_011530756.1:c.12983T>G	XP_011529058.1:p.Ile4328Ser
XM_011530757.1:c.12680T>G	XP_011529059.1:p.Ile4227Ser
XM_005261965.4:c.12833T>G	XP_005262022.1:p.Ile4278Ser
XM_011530751.2:c.13082T>G	XP_011529053.1:p.Ile4361Ser
XM_017029191.1:c.13214T>G	XP_016884680.1:p.Ile4405Ser
XM_017029192.1:c.13211T>G	XP_016884681.1:p.Ile4404Ser
XM_017029193.1:c.13193T>G	XP_016884682.1:p.Ile4398Ser
XM_017029194.1:c.13169T>G	XP_016884683.1:p.Ile4390Ser
XM_017029195.1:c.13166T>G	XP_016884684.1:p.Ile4389Ser
XM_017029196.1:c.13163T>G	XP_016884685.1:p.Ile4388Ser
XM_017029197.1:c.13115T>G	XP_016884686.1:p.Ile4372Ser
XM_017029198.2:c.13103T>G	XP_016884687.1:p.Ile4368Ser
XM_017029199.1:c.13103T>G	XP_016884688.1:p.Ile4368Ser
XM_017029200.1:c.13103T>G	XP_016884689.1:p.Ile4368Ser
XM_017029201.1:c.13103T>G	XP_016884690.1:p.Ile4368Ser
XM_017029202.1:c.13103T>G	XP_016884691.1:p.Ile4368Ser
XM_017029203.1:c.13103T>G	XP_016884692.1:p.Ile4368Ser
XM_017029204.1:c.12965T>G	XP_016884693.1:p.Ile4322Ser
XM_017029206.1:c.12812T>G	XP_016884695.1:p.Ile4271Ser
XM_024452322.1:c.13082T>G	XP_024308090.1:p.Ile4361Ser
NM_031407.7:c.12833T>G MANE Select	NP_113584.3:p.Ile4278Ser