Canonical Allele Identifier: CA413145782

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561481A>C (hg19) ; chrX:g.53534520A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534520A>C , CM000685.2:g.53534520A>C	GRCh38
NC_000023.10:g.53561481A>C , CM000685.1:g.53561481A>C	GRCh37
NC_000023.9:g.53578206A>C	NCBI36
NG_016261.2:g.157214T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12611T>G	ENSP00000515693.1:p.Ile4204Ser
ENST00000262854.11:c.12827T>G MANE Select	ENSP00000262854.6:p.Ile4276Ser
ENST00000262854.10:c.12827T>G	ENSP00000262854.6:p.Ile4276Ser
ENST00000342160.7:c.12827T>G	ENSP00000340648.3:p.Ile4276Ser
ENST00000426907.5:c.3294T>G
ENST00000488459.1:n.140T>G
ENST00000612484.4:c.12800T>G	ENSP00000479451.1:p.Ile4267Ser
NM_031407.6:c.12827T>G	NP_113584.3:p.Ile4276Ser
XM_005261965.2:c.12827T>G	XP_005262022.1:p.Ile4276Ser
XM_011530746.1:c.13076T>G	XP_011529048.1:p.Ile4359Ser
XM_011530747.1:c.13076T>G	XP_011529049.1:p.Ile4359Ser
XM_011530748.1:c.13076T>G	XP_011529050.1:p.Ile4359Ser
XM_011530749.1:c.13076T>G	XP_011529051.1:p.Ile4359Ser
XM_011530750.1:c.13076T>G	XP_011529052.1:p.Ile4359Ser
XM_011530751.1:c.13076T>G	XP_011529053.1:p.Ile4359Ser
XM_011530752.1:c.13073T>G	XP_011529054.1:p.Ile4358Ser
XM_011530753.1:c.13031T>G	XP_011529055.1:p.Ile4344Ser
XM_011530754.1:c.13028T>G	XP_011529056.1:p.Ile4343Ser
XM_011530755.1:c.13025T>G	XP_011529057.1:p.Ile4342Ser
XM_011530756.1:c.12977T>G	XP_011529058.1:p.Ile4326Ser
XM_011530757.1:c.12674T>G	XP_011529059.1:p.Ile4225Ser
XM_005261965.4:c.12827T>G	XP_005262022.1:p.Ile4276Ser
XM_011530751.2:c.13076T>G	XP_011529053.1:p.Ile4359Ser
XM_017029191.1:c.13208T>G	XP_016884680.1:p.Ile4403Ser
XM_017029192.1:c.13205T>G	XP_016884681.1:p.Ile4402Ser
XM_017029193.1:c.13187T>G	XP_016884682.1:p.Ile4396Ser
XM_017029194.1:c.13163T>G	XP_016884683.1:p.Ile4388Ser
XM_017029195.1:c.13160T>G	XP_016884684.1:p.Ile4387Ser
XM_017029196.1:c.13157T>G	XP_016884685.1:p.Ile4386Ser
XM_017029197.1:c.13109T>G	XP_016884686.1:p.Ile4370Ser
XM_017029198.2:c.13097T>G	XP_016884687.1:p.Ile4366Ser
XM_017029199.1:c.13097T>G	XP_016884688.1:p.Ile4366Ser
XM_017029200.1:c.13097T>G	XP_016884689.1:p.Ile4366Ser
XM_017029201.1:c.13097T>G	XP_016884690.1:p.Ile4366Ser
XM_017029202.1:c.13097T>G	XP_016884691.1:p.Ile4366Ser
XM_017029203.1:c.13097T>G	XP_016884692.1:p.Ile4366Ser
XM_017029204.1:c.12959T>G	XP_016884693.1:p.Ile4320Ser
XM_017029206.1:c.12806T>G	XP_016884695.1:p.Ile4269Ser
XM_024452322.1:c.13076T>G	XP_024308090.1:p.Ile4359Ser
NM_031407.7:c.12827T>G MANE Select	NP_113584.3:p.Ile4276Ser