Canonical Allele Identifier: CA413146839

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561609G>C (hg19) ; chrX:g.53534648G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534648G>C , CM000685.2:g.53534648G>C	GRCh38
NC_000023.10:g.53561609G>C , CM000685.1:g.53561609G>C	GRCh37
NC_000023.9:g.53578334G>C	NCBI36
NG_016261.2:g.157086C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12483C>G	ENSP00000515693.1:p.Ile4161Met
ENST00000262854.11:c.12699C>G MANE Select	ENSP00000262854.6:p.Ile4233Met
ENST00000262854.10:c.12699C>G	ENSP00000262854.6:p.Ile4233Met
ENST00000342160.7:c.12699C>G	ENSP00000340648.3:p.Ile4233Met
ENST00000426907.5:c.3166C>G
ENST00000488459.1:n.12C>G
ENST00000612484.4:c.12672C>G	ENSP00000479451.1:p.Ile4224Met
NM_031407.6:c.12699C>G	NP_113584.3:p.Ile4233Met
XM_005261965.2:c.12699C>G	XP_005262022.1:p.Ile4233Met
XM_011530746.1:c.12948C>G	XP_011529048.1:p.Ile4316Met
XM_011530747.1:c.12948C>G	XP_011529049.1:p.Ile4316Met
XM_011530748.1:c.12948C>G	XP_011529050.1:p.Ile4316Met
XM_011530749.1:c.12948C>G	XP_011529051.1:p.Ile4316Met
XM_011530750.1:c.12948C>G	XP_011529052.1:p.Ile4316Met
XM_011530751.1:c.12948C>G	XP_011529053.1:p.Ile4316Met
XM_011530752.1:c.12945C>G	XP_011529054.1:p.Ile4315Met
XM_011530753.1:c.12903C>G	XP_011529055.1:p.Ile4301Met
XM_011530754.1:c.12900C>G	XP_011529056.1:p.Ile4300Met
XM_011530755.1:c.12897C>G	XP_011529057.1:p.Ile4299Met
XM_011530756.1:c.12849C>G	XP_011529058.1:p.Ile4283Met
XM_011530757.1:c.12546C>G	XP_011529059.1:p.Ile4182Met
XM_005261965.4:c.12699C>G	XP_005262022.1:p.Ile4233Met
XM_011530751.2:c.12948C>G	XP_011529053.1:p.Ile4316Met
XM_017029191.1:c.13080C>G	XP_016884680.1:p.Ile4360Met
XM_017029192.1:c.13077C>G	XP_016884681.1:p.Ile4359Met
XM_017029193.1:c.13059C>G	XP_016884682.1:p.Ile4353Met
XM_017029194.1:c.13035C>G	XP_016884683.1:p.Ile4345Met
XM_017029195.1:c.13032C>G	XP_016884684.1:p.Ile4344Met
XM_017029196.1:c.13029C>G	XP_016884685.1:p.Ile4343Met
XM_017029197.1:c.12981C>G	XP_016884686.1:p.Ile4327Met
XM_017029198.2:c.12969C>G	XP_016884687.1:p.Ile4323Met
XM_017029199.1:c.12969C>G	XP_016884688.1:p.Ile4323Met
XM_017029200.1:c.12969C>G	XP_016884689.1:p.Ile4323Met
XM_017029201.1:c.12969C>G	XP_016884690.1:p.Ile4323Met
XM_017029202.1:c.12969C>G	XP_016884691.1:p.Ile4323Met
XM_017029203.1:c.12969C>G	XP_016884692.1:p.Ile4323Met
XM_017029204.1:c.12831C>G	XP_016884693.1:p.Ile4277Met
XM_017029206.1:c.12678C>G	XP_016884695.1:p.Ile4226Met
XM_024452322.1:c.12948C>G	XP_024308090.1:p.Ile4316Met
NM_031407.7:c.12699C>G MANE Select	NP_113584.3:p.Ile4233Met