Canonical Allele Identifier: CA413155240

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53564568T>C (hg19) ; chrX:g.53537607T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537607T>C , CM000685.2:g.53537607T>C	GRCh38
NC_000023.10:g.53564568T>C , CM000685.1:g.53564568T>C	GRCh37
NC_000023.9:g.53581293T>C	NCBI36
NG_016261.2:g.154127A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11870A>G	ENSP00000515693.1:p.Asp3957Gly
ENST00000262854.11:c.12086A>G MANE Select	ENSP00000262854.6:p.Asp4029Gly
ENST00000262854.10:c.12086A>G	ENSP00000262854.6:p.Asp4029Gly
ENST00000342160.7:c.12086A>G	ENSP00000340648.3:p.Asp4029Gly
ENST00000426907.5:c.2553A>G
ENST00000480438.1:n.221A>G
ENST00000612484.4:c.12059A>G	ENSP00000479451.1:p.Asp4020Gly
NM_031407.6:c.12086A>G	NP_113584.3:p.Asp4029Gly
XM_005261965.2:c.12086A>G	XP_005262022.1:p.Asp4029Gly
XM_011530746.1:c.12335A>G	XP_011529048.1:p.Asp4112Gly
XM_011530747.1:c.12335A>G	XP_011529049.1:p.Asp4112Gly
XM_011530748.1:c.12335A>G	XP_011529050.1:p.Asp4112Gly
XM_011530749.1:c.12335A>G	XP_011529051.1:p.Asp4112Gly
XM_011530750.1:c.12335A>G	XP_011529052.1:p.Asp4112Gly
XM_011530751.1:c.12335A>G	XP_011529053.1:p.Asp4112Gly
XM_011530752.1:c.12332A>G	XP_011529054.1:p.Asp4111Gly
XM_011530753.1:c.12290A>G	XP_011529055.1:p.Asp4097Gly
XM_011530754.1:c.12287A>G	XP_011529056.1:p.Asp4096Gly
XM_011530755.1:c.12284A>G	XP_011529057.1:p.Asp4095Gly
XM_011530756.1:c.12236A>G	XP_011529058.1:p.Asp4079Gly
XM_011530757.1:c.11933A>G	XP_011529059.1:p.Asp3978Gly
XM_005261965.4:c.12086A>G	XP_005262022.1:p.Asp4029Gly
XM_011530751.2:c.12335A>G	XP_011529053.1:p.Asp4112Gly
XM_017029191.1:c.12467A>G	XP_016884680.1:p.Asp4156Gly
XM_017029192.1:c.12464A>G	XP_016884681.1:p.Asp4155Gly
XM_017029193.1:c.12446A>G	XP_016884682.1:p.Asp4149Gly
XM_017029194.1:c.12422A>G	XP_016884683.1:p.Asp4141Gly
XM_017029195.1:c.12419A>G	XP_016884684.1:p.Asp4140Gly
XM_017029196.1:c.12416A>G	XP_016884685.1:p.Asp4139Gly
XM_017029197.1:c.12368A>G	XP_016884686.1:p.Asp4123Gly
XM_017029198.2:c.12356A>G	XP_016884687.1:p.Asp4119Gly
XM_017029199.1:c.12356A>G	XP_016884688.1:p.Asp4119Gly
XM_017029200.1:c.12356A>G	XP_016884689.1:p.Asp4119Gly
XM_017029201.1:c.12356A>G	XP_016884690.1:p.Asp4119Gly
XM_017029202.1:c.12356A>G	XP_016884691.1:p.Asp4119Gly
XM_017029203.1:c.12356A>G	XP_016884692.1:p.Asp4119Gly
XM_017029204.1:c.12218A>G	XP_016884693.1:p.Asp4073Gly
XM_017029206.1:c.12065A>G	XP_016884695.1:p.Asp4022Gly
XM_024452322.1:c.12335A>G	XP_024308090.1:p.Asp4112Gly
NM_031407.7:c.12086A>G MANE Select	NP_113584.3:p.Asp4029Gly