Canonical Allele Identifier: CA413146130

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561520T>A (hg19) ; chrX:g.53534559T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534559T>A , CM000685.2:g.53534559T>A	GRCh38
NC_000023.10:g.53561520T>A , CM000685.1:g.53561520T>A	GRCh37
NC_000023.9:g.53578245T>A	NCBI36
NG_016261.2:g.157175A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12572A>T	ENSP00000515693.1:p.Lys4191Ile
ENST00000262854.11:c.12788A>T MANE Select	ENSP00000262854.6:p.Lys4263Ile
ENST00000262854.10:c.12788A>T	ENSP00000262854.6:p.Lys4263Ile
ENST00000342160.7:c.12788A>T	ENSP00000340648.3:p.Lys4263Ile
ENST00000426907.5:c.3255A>T
ENST00000488459.1:n.101A>T
ENST00000612484.4:c.12761A>T	ENSP00000479451.1:p.Lys4254Ile
NM_031407.6:c.12788A>T	NP_113584.3:p.Lys4263Ile
XM_005261965.2:c.12788A>T	XP_005262022.1:p.Lys4263Ile
XM_011530746.1:c.13037A>T	XP_011529048.1:p.Lys4346Ile
XM_011530747.1:c.13037A>T	XP_011529049.1:p.Lys4346Ile
XM_011530748.1:c.13037A>T	XP_011529050.1:p.Lys4346Ile
XM_011530749.1:c.13037A>T	XP_011529051.1:p.Lys4346Ile
XM_011530750.1:c.13037A>T	XP_011529052.1:p.Lys4346Ile
XM_011530751.1:c.13037A>T	XP_011529053.1:p.Lys4346Ile
XM_011530752.1:c.13034A>T	XP_011529054.1:p.Lys4345Ile
XM_011530753.1:c.12992A>T	XP_011529055.1:p.Lys4331Ile
XM_011530754.1:c.12989A>T	XP_011529056.1:p.Lys4330Ile
XM_011530755.1:c.12986A>T	XP_011529057.1:p.Lys4329Ile
XM_011530756.1:c.12938A>T	XP_011529058.1:p.Lys4313Ile
XM_011530757.1:c.12635A>T	XP_011529059.1:p.Lys4212Ile
XM_005261965.4:c.12788A>T	XP_005262022.1:p.Lys4263Ile
XM_011530751.2:c.13037A>T	XP_011529053.1:p.Lys4346Ile
XM_017029191.1:c.13169A>T	XP_016884680.1:p.Lys4390Ile
XM_017029192.1:c.13166A>T	XP_016884681.1:p.Lys4389Ile
XM_017029193.1:c.13148A>T	XP_016884682.1:p.Lys4383Ile
XM_017029194.1:c.13124A>T	XP_016884683.1:p.Lys4375Ile
XM_017029195.1:c.13121A>T	XP_016884684.1:p.Lys4374Ile
XM_017029196.1:c.13118A>T	XP_016884685.1:p.Lys4373Ile
XM_017029197.1:c.13070A>T	XP_016884686.1:p.Lys4357Ile
XM_017029198.2:c.13058A>T	XP_016884687.1:p.Lys4353Ile
XM_017029199.1:c.13058A>T	XP_016884688.1:p.Lys4353Ile
XM_017029200.1:c.13058A>T	XP_016884689.1:p.Lys4353Ile
XM_017029201.1:c.13058A>T	XP_016884690.1:p.Lys4353Ile
XM_017029202.1:c.13058A>T	XP_016884691.1:p.Lys4353Ile
XM_017029203.1:c.13058A>T	XP_016884692.1:p.Lys4353Ile
XM_017029204.1:c.12920A>T	XP_016884693.1:p.Lys4307Ile
XM_017029206.1:c.12767A>T	XP_016884695.1:p.Lys4256Ile
XM_024452322.1:c.13037A>T	XP_024308090.1:p.Lys4346Ile
NM_031407.7:c.12788A>T MANE Select	NP_113584.3:p.Lys4263Ile