Canonical Allele Identifier: CA413156051

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53564640A>C (hg19) ; chrX:g.53537679A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537679A>C , CM000685.2:g.53537679A>C	GRCh38
NC_000023.10:g.53564640A>C , CM000685.1:g.53564640A>C	GRCh37
NC_000023.9:g.53581365A>C	NCBI36
NG_016261.2:g.154055T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11798T>G	ENSP00000515693.1:p.Leu3933Arg
ENST00000262854.11:c.12014T>G MANE Select	ENSP00000262854.6:p.Leu4005Arg
ENST00000262854.10:c.12014T>G	ENSP00000262854.6:p.Leu4005Arg
ENST00000342160.7:c.12014T>G	ENSP00000340648.3:p.Leu4005Arg
ENST00000426907.5:c.2481T>G
ENST00000480438.1:n.149T>G
ENST00000612484.4:c.11987T>G	ENSP00000479451.1:p.Leu3996Arg
NM_031407.6:c.12014T>G	NP_113584.3:p.Leu4005Arg
XM_005261965.2:c.12014T>G	XP_005262022.1:p.Leu4005Arg
XM_011530746.1:c.12263T>G	XP_011529048.1:p.Leu4088Arg
XM_011530747.1:c.12263T>G	XP_011529049.1:p.Leu4088Arg
XM_011530748.1:c.12263T>G	XP_011529050.1:p.Leu4088Arg
XM_011530749.1:c.12263T>G	XP_011529051.1:p.Leu4088Arg
XM_011530750.1:c.12263T>G	XP_011529052.1:p.Leu4088Arg
XM_011530751.1:c.12263T>G	XP_011529053.1:p.Leu4088Arg
XM_011530752.1:c.12260T>G	XP_011529054.1:p.Leu4087Arg
XM_011530753.1:c.12218T>G	XP_011529055.1:p.Leu4073Arg
XM_011530754.1:c.12215T>G	XP_011529056.1:p.Leu4072Arg
XM_011530755.1:c.12212T>G	XP_011529057.1:p.Leu4071Arg
XM_011530756.1:c.12164T>G	XP_011529058.1:p.Leu4055Arg
XM_011530757.1:c.11861T>G	XP_011529059.1:p.Leu3954Arg
XM_005261965.4:c.12014T>G	XP_005262022.1:p.Leu4005Arg
XM_011530751.2:c.12263T>G	XP_011529053.1:p.Leu4088Arg
XM_017029191.1:c.12395T>G	XP_016884680.1:p.Leu4132Arg
XM_017029192.1:c.12392T>G	XP_016884681.1:p.Leu4131Arg
XM_017029193.1:c.12374T>G	XP_016884682.1:p.Leu4125Arg
XM_017029194.1:c.12350T>G	XP_016884683.1:p.Leu4117Arg
XM_017029195.1:c.12347T>G	XP_016884684.1:p.Leu4116Arg
XM_017029196.1:c.12344T>G	XP_016884685.1:p.Leu4115Arg
XM_017029197.1:c.12296T>G	XP_016884686.1:p.Leu4099Arg
XM_017029198.2:c.12284T>G	XP_016884687.1:p.Leu4095Arg
XM_017029199.1:c.12284T>G	XP_016884688.1:p.Leu4095Arg
XM_017029200.1:c.12284T>G	XP_016884689.1:p.Leu4095Arg
XM_017029201.1:c.12284T>G	XP_016884690.1:p.Leu4095Arg
XM_017029202.1:c.12284T>G	XP_016884691.1:p.Leu4095Arg
XM_017029203.1:c.12284T>G	XP_016884692.1:p.Leu4095Arg
XM_017029204.1:c.12146T>G	XP_016884693.1:p.Leu4049Arg
XM_017029206.1:c.11993T>G	XP_016884695.1:p.Leu3998Arg
XM_024452322.1:c.12263T>G	XP_024308090.1:p.Leu4088Arg
NM_031407.7:c.12014T>G MANE Select	NP_113584.3:p.Leu4005Arg