Canonical Allele Identifier: CA413155282

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53564573A>C (hg19) ; chrX:g.53537612A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537612A>C , CM000685.2:g.53537612A>C	GRCh38
NC_000023.10:g.53564573A>C , CM000685.1:g.53564573A>C	GRCh37
NC_000023.9:g.53581298A>C	NCBI36
NG_016261.2:g.154122T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11865T>G	ENSP00000515693.1:p.Phe3955Leu
ENST00000262854.11:c.12081T>G MANE Select	ENSP00000262854.6:p.Phe4027Leu
ENST00000262854.10:c.12081T>G	ENSP00000262854.6:p.Phe4027Leu
ENST00000342160.7:c.12081T>G	ENSP00000340648.3:p.Phe4027Leu
ENST00000426907.5:c.2548T>G
ENST00000480438.1:n.216T>G
ENST00000612484.4:c.12054T>G	ENSP00000479451.1:p.Phe4018Leu
NM_031407.6:c.12081T>G	NP_113584.3:p.Phe4027Leu
XM_005261965.2:c.12081T>G	XP_005262022.1:p.Phe4027Leu
XM_011530746.1:c.12330T>G	XP_011529048.1:p.Phe4110Leu
XM_011530747.1:c.12330T>G	XP_011529049.1:p.Phe4110Leu
XM_011530748.1:c.12330T>G	XP_011529050.1:p.Phe4110Leu
XM_011530749.1:c.12330T>G	XP_011529051.1:p.Phe4110Leu
XM_011530750.1:c.12330T>G	XP_011529052.1:p.Phe4110Leu
XM_011530751.1:c.12330T>G	XP_011529053.1:p.Phe4110Leu
XM_011530752.1:c.12327T>G	XP_011529054.1:p.Phe4109Leu
XM_011530753.1:c.12285T>G	XP_011529055.1:p.Phe4095Leu
XM_011530754.1:c.12282T>G	XP_011529056.1:p.Phe4094Leu
XM_011530755.1:c.12279T>G	XP_011529057.1:p.Phe4093Leu
XM_011530756.1:c.12231T>G	XP_011529058.1:p.Phe4077Leu
XM_011530757.1:c.11928T>G	XP_011529059.1:p.Phe3976Leu
XM_005261965.4:c.12081T>G	XP_005262022.1:p.Phe4027Leu
XM_011530751.2:c.12330T>G	XP_011529053.1:p.Phe4110Leu
XM_017029191.1:c.12462T>G	XP_016884680.1:p.Phe4154Leu
XM_017029192.1:c.12459T>G	XP_016884681.1:p.Phe4153Leu
XM_017029193.1:c.12441T>G	XP_016884682.1:p.Phe4147Leu
XM_017029194.1:c.12417T>G	XP_016884683.1:p.Phe4139Leu
XM_017029195.1:c.12414T>G	XP_016884684.1:p.Phe4138Leu
XM_017029196.1:c.12411T>G	XP_016884685.1:p.Phe4137Leu
XM_017029197.1:c.12363T>G	XP_016884686.1:p.Phe4121Leu
XM_017029198.2:c.12351T>G	XP_016884687.1:p.Phe4117Leu
XM_017029199.1:c.12351T>G	XP_016884688.1:p.Phe4117Leu
XM_017029200.1:c.12351T>G	XP_016884689.1:p.Phe4117Leu
XM_017029201.1:c.12351T>G	XP_016884690.1:p.Phe4117Leu
XM_017029202.1:c.12351T>G	XP_016884691.1:p.Phe4117Leu
XM_017029203.1:c.12351T>G	XP_016884692.1:p.Phe4117Leu
XM_017029204.1:c.12213T>G	XP_016884693.1:p.Phe4071Leu
XM_017029206.1:c.12060T>G	XP_016884695.1:p.Phe4020Leu
XM_024452322.1:c.12330T>G	XP_024308090.1:p.Phe4110Leu
NM_031407.7:c.12081T>G MANE Select	NP_113584.3:p.Phe4027Leu