Canonical Allele Identifier: CA413155900

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53564628T>C (hg19) ; chrX:g.53537667T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537667T>C , CM000685.2:g.53537667T>C	GRCh38
NC_000023.10:g.53564628T>C , CM000685.1:g.53564628T>C	GRCh37
NC_000023.9:g.53581353T>C	NCBI36
NG_016261.2:g.154067A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11810A>G	ENSP00000515693.1:p.Asp3937Gly
ENST00000262854.11:c.12026A>G MANE Select	ENSP00000262854.6:p.Asp4009Gly
ENST00000262854.10:c.12026A>G	ENSP00000262854.6:p.Asp4009Gly
ENST00000342160.7:c.12026A>G	ENSP00000340648.3:p.Asp4009Gly
ENST00000426907.5:c.2493A>G
ENST00000480438.1:n.161A>G
ENST00000612484.4:c.11999A>G	ENSP00000479451.1:p.Asp4000Gly
NM_031407.6:c.12026A>G	NP_113584.3:p.Asp4009Gly
XM_005261965.2:c.12026A>G	XP_005262022.1:p.Asp4009Gly
XM_011530746.1:c.12275A>G	XP_011529048.1:p.Asp4092Gly
XM_011530747.1:c.12275A>G	XP_011529049.1:p.Asp4092Gly
XM_011530748.1:c.12275A>G	XP_011529050.1:p.Asp4092Gly
XM_011530749.1:c.12275A>G	XP_011529051.1:p.Asp4092Gly
XM_011530750.1:c.12275A>G	XP_011529052.1:p.Asp4092Gly
XM_011530751.1:c.12275A>G	XP_011529053.1:p.Asp4092Gly
XM_011530752.1:c.12272A>G	XP_011529054.1:p.Asp4091Gly
XM_011530753.1:c.12230A>G	XP_011529055.1:p.Asp4077Gly
XM_011530754.1:c.12227A>G	XP_011529056.1:p.Asp4076Gly
XM_011530755.1:c.12224A>G	XP_011529057.1:p.Asp4075Gly
XM_011530756.1:c.12176A>G	XP_011529058.1:p.Asp4059Gly
XM_011530757.1:c.11873A>G	XP_011529059.1:p.Asp3958Gly
XM_005261965.4:c.12026A>G	XP_005262022.1:p.Asp4009Gly
XM_011530751.2:c.12275A>G	XP_011529053.1:p.Asp4092Gly
XM_017029191.1:c.12407A>G	XP_016884680.1:p.Asp4136Gly
XM_017029192.1:c.12404A>G	XP_016884681.1:p.Asp4135Gly
XM_017029193.1:c.12386A>G	XP_016884682.1:p.Asp4129Gly
XM_017029194.1:c.12362A>G	XP_016884683.1:p.Asp4121Gly
XM_017029195.1:c.12359A>G	XP_016884684.1:p.Asp4120Gly
XM_017029196.1:c.12356A>G	XP_016884685.1:p.Asp4119Gly
XM_017029197.1:c.12308A>G	XP_016884686.1:p.Asp4103Gly
XM_017029198.2:c.12296A>G	XP_016884687.1:p.Asp4099Gly
XM_017029199.1:c.12296A>G	XP_016884688.1:p.Asp4099Gly
XM_017029200.1:c.12296A>G	XP_016884689.1:p.Asp4099Gly
XM_017029201.1:c.12296A>G	XP_016884690.1:p.Asp4099Gly
XM_017029202.1:c.12296A>G	XP_016884691.1:p.Asp4099Gly
XM_017029203.1:c.12296A>G	XP_016884692.1:p.Asp4099Gly
XM_017029204.1:c.12158A>G	XP_016884693.1:p.Asp4053Gly
XM_017029206.1:c.12005A>G	XP_016884695.1:p.Asp4002Gly
XM_024452322.1:c.12275A>G	XP_024308090.1:p.Asp4092Gly
NM_031407.7:c.12026A>G MANE Select	NP_113584.3:p.Asp4009Gly