Canonical Allele Identifier: CA516424116

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53564648G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537687G>C , CM000685.2:g.53537687G>C	GRCh38
NC_000023.10:g.53564648G>C , CM000685.1:g.53564648G>C	GRCh37
NC_000023.9:g.53581373G>C	NCBI36
NG_016261.2:g.154047C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11790C>G	ENSP00000515693.1:p.Arg3930=
ENST00000262854.11:c.12006C>G MANE Select	ENSP00000262854.6:p.Arg4002=
ENST00000262854.10:c.12006C>G	ENSP00000262854.6:p.Arg4002=
ENST00000342160.7:c.12006C>G	ENSP00000340648.3:p.Arg4002=
ENST00000426907.5:c.2473C>G
ENST00000480438.1:n.141C>G
ENST00000612484.4:c.11979C>G	ENSP00000479451.1:p.Arg3993=
NM_031407.6:c.12006C>G	NP_113584.3:p.Arg4002=
XM_005261965.2:c.12006C>G	XP_005262022.1:p.Arg4002=
XM_011530746.1:c.12255C>G	XP_011529048.1:p.Arg4085=
XM_011530747.1:c.12255C>G	XP_011529049.1:p.Arg4085=
XM_011530748.1:c.12255C>G	XP_011529050.1:p.Arg4085=
XM_011530749.1:c.12255C>G	XP_011529051.1:p.Arg4085=
XM_011530750.1:c.12255C>G	XP_011529052.1:p.Arg4085=
XM_011530751.1:c.12255C>G	XP_011529053.1:p.Arg4085=
XM_011530752.1:c.12252C>G	XP_011529054.1:p.Arg4084=
XM_011530753.1:c.12210C>G	XP_011529055.1:p.Arg4070=
XM_011530754.1:c.12207C>G	XP_011529056.1:p.Arg4069=
XM_011530755.1:c.12204C>G	XP_011529057.1:p.Arg4068=
XM_011530756.1:c.12156C>G	XP_011529058.1:p.Arg4052=
XM_011530757.1:c.11853C>G	XP_011529059.1:p.Arg3951=
XM_005261965.4:c.12006C>G	XP_005262022.1:p.Arg4002=
XM_011530751.2:c.12255C>G	XP_011529053.1:p.Arg4085=
XM_017029191.1:c.12387C>G	XP_016884680.1:p.Arg4129=
XM_017029192.1:c.12384C>G	XP_016884681.1:p.Arg4128=
XM_017029193.1:c.12366C>G	XP_016884682.1:p.Arg4122=
XM_017029194.1:c.12342C>G	XP_016884683.1:p.Arg4114=
XM_017029195.1:c.12339C>G	XP_016884684.1:p.Arg4113=
XM_017029196.1:c.12336C>G	XP_016884685.1:p.Arg4112=
XM_017029197.1:c.12288C>G	XP_016884686.1:p.Arg4096=
XM_017029198.2:c.12276C>G	XP_016884687.1:p.Arg4092=
XM_017029199.1:c.12276C>G	XP_016884688.1:p.Arg4092=
XM_017029200.1:c.12276C>G	XP_016884689.1:p.Arg4092=
XM_017029201.1:c.12276C>G	XP_016884690.1:p.Arg4092=
XM_017029202.1:c.12276C>G	XP_016884691.1:p.Arg4092=
XM_017029203.1:c.12276C>G	XP_016884692.1:p.Arg4092=
XM_017029204.1:c.12138C>G	XP_016884693.1:p.Arg4046=
XM_017029206.1:c.11985C>G	XP_016884695.1:p.Arg3995=
XM_024452322.1:c.12255C>G	XP_024308090.1:p.Arg4085=
NM_031407.7:c.12006C>G MANE Select	NP_113584.3:p.Arg4002=