Canonical Allele Identifier: CA413154775

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53564534T>G (hg19) ; chrX:g.53537573T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537573T>G , CM000685.2:g.53537573T>G	GRCh38
NC_000023.10:g.53564534T>G , CM000685.1:g.53564534T>G	GRCh37
NC_000023.9:g.53581259T>G	NCBI36
NG_016261.2:g.154161A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11904A>C	ENSP00000515693.1:p.Glu3968Asp
ENST00000262854.11:c.12120A>C MANE Select	ENSP00000262854.6:p.Glu4040Asp
ENST00000262854.10:c.12120A>C	ENSP00000262854.6:p.Glu4040Asp
ENST00000342160.7:c.12120A>C	ENSP00000340648.3:p.Glu4040Asp
ENST00000426907.5:c.2587A>C
ENST00000480438.1:n.255A>C
ENST00000612484.4:c.12093A>C	ENSP00000479451.1:p.Glu4031Asp
NM_031407.6:c.12120A>C	NP_113584.3:p.Glu4040Asp
XM_005261965.2:c.12120A>C	XP_005262022.1:p.Glu4040Asp
XM_011530746.1:c.12369A>C	XP_011529048.1:p.Glu4123Asp
XM_011530747.1:c.12369A>C	XP_011529049.1:p.Glu4123Asp
XM_011530748.1:c.12369A>C	XP_011529050.1:p.Glu4123Asp
XM_011530749.1:c.12369A>C	XP_011529051.1:p.Glu4123Asp
XM_011530750.1:c.12369A>C	XP_011529052.1:p.Glu4123Asp
XM_011530751.1:c.12369A>C	XP_011529053.1:p.Glu4123Asp
XM_011530752.1:c.12366A>C	XP_011529054.1:p.Glu4122Asp
XM_011530753.1:c.12324A>C	XP_011529055.1:p.Glu4108Asp
XM_011530754.1:c.12321A>C	XP_011529056.1:p.Glu4107Asp
XM_011530755.1:c.12318A>C	XP_011529057.1:p.Glu4106Asp
XM_011530756.1:c.12270A>C	XP_011529058.1:p.Glu4090Asp
XM_011530757.1:c.11967A>C	XP_011529059.1:p.Glu3989Asp
XM_005261965.4:c.12120A>C	XP_005262022.1:p.Glu4040Asp
XM_011530751.2:c.12369A>C	XP_011529053.1:p.Glu4123Asp
XM_017029191.1:c.12501A>C	XP_016884680.1:p.Glu4167Asp
XM_017029192.1:c.12498A>C	XP_016884681.1:p.Glu4166Asp
XM_017029193.1:c.12480A>C	XP_016884682.1:p.Glu4160Asp
XM_017029194.1:c.12456A>C	XP_016884683.1:p.Glu4152Asp
XM_017029195.1:c.12453A>C	XP_016884684.1:p.Glu4151Asp
XM_017029196.1:c.12450A>C	XP_016884685.1:p.Glu4150Asp
XM_017029197.1:c.12402A>C	XP_016884686.1:p.Glu4134Asp
XM_017029198.2:c.12390A>C	XP_016884687.1:p.Glu4130Asp
XM_017029199.1:c.12390A>C	XP_016884688.1:p.Glu4130Asp
XM_017029200.1:c.12390A>C	XP_016884689.1:p.Glu4130Asp
XM_017029201.1:c.12390A>C	XP_016884690.1:p.Glu4130Asp
XM_017029202.1:c.12390A>C	XP_016884691.1:p.Glu4130Asp
XM_017029203.1:c.12390A>C	XP_016884692.1:p.Glu4130Asp
XM_017029204.1:c.12252A>C	XP_016884693.1:p.Glu4084Asp
XM_017029206.1:c.12099A>C	XP_016884695.1:p.Glu4033Asp
XM_024452322.1:c.12369A>C	XP_024308090.1:p.Glu4123Asp
NM_031407.7:c.12120A>C MANE Select	NP_113584.3:p.Glu4040Asp