Canonical Allele Identifier: CA413144902

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561107T>A (hg19) ; chrX:g.53534146T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534146T>A , CM000685.2:g.53534146T>A	GRCh38
NC_000023.10:g.53561107T>A , CM000685.1:g.53561107T>A	GRCh37
NC_000023.9:g.53577832T>A	NCBI36
NG_016261.2:g.157588A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12667A>T	ENSP00000515693.1:p.Lys4223Ter
ENST00000262854.11:c.12883A>T MANE Select	ENSP00000262854.6:p.Lys4295Ter
ENST00000262854.10:c.12883A>T	ENSP00000262854.6:p.Lys4295Ter
ENST00000342160.7:c.12883A>T	ENSP00000340648.3:p.Lys4295Ter
ENST00000426907.5:c.3350A>T
ENST00000488459.1:n.196A>T
ENST00000612484.4:c.12856A>T	ENSP00000479451.1:p.Lys4286Ter
NM_031407.6:c.12883A>T	NP_113584.3:p.Lys4295Ter
XM_005261965.2:c.12883A>T	XP_005262022.1:p.Lys4295Ter
XM_011530746.1:c.13132A>T	XP_011529048.1:p.Lys4378Ter
XM_011530747.1:c.13132A>T	XP_011529049.1:p.Lys4378Ter
XM_011530748.1:c.13132A>T	XP_011529050.1:p.Lys4378Ter
XM_011530749.1:c.13132A>T	XP_011529051.1:p.Lys4378Ter
XM_011530750.1:c.13132A>T	XP_011529052.1:p.Lys4378Ter
XM_011530751.1:c.13132A>T	XP_011529053.1:p.Lys4378Ter
XM_011530752.1:c.13129A>T	XP_011529054.1:p.Lys4377Ter
XM_011530753.1:c.13087A>T	XP_011529055.1:p.Lys4363Ter
XM_011530754.1:c.13084A>T	XP_011529056.1:p.Lys4362Ter
XM_011530755.1:c.13081A>T	XP_011529057.1:p.Lys4361Ter
XM_011530756.1:c.13033A>T	XP_011529058.1:p.Lys4345Ter
XM_011530757.1:c.12730A>T	XP_011529059.1:p.Lys4244Ter
XM_005261965.4:c.12883A>T	XP_005262022.1:p.Lys4295Ter
XM_011530751.2:c.13132A>T	XP_011529053.1:p.Lys4378Ter
XM_017029191.1:c.13264A>T	XP_016884680.1:p.Lys4422Ter
XM_017029192.1:c.13261A>T	XP_016884681.1:p.Lys4421Ter
XM_017029193.1:c.13243A>T	XP_016884682.1:p.Lys4415Ter
XM_017029194.1:c.13219A>T	XP_016884683.1:p.Lys4407Ter
XM_017029195.1:c.13216A>T	XP_016884684.1:p.Lys4406Ter
XM_017029196.1:c.13213A>T	XP_016884685.1:p.Lys4405Ter
XM_017029197.1:c.13165A>T	XP_016884686.1:p.Lys4389Ter
XM_017029198.2:c.13153A>T	XP_016884687.1:p.Lys4385Ter
XM_017029199.1:c.13153A>T	XP_016884688.1:p.Lys4385Ter
XM_017029200.1:c.13153A>T	XP_016884689.1:p.Lys4385Ter
XM_017029201.1:c.13153A>T	XP_016884690.1:p.Lys4385Ter
XM_017029202.1:c.13153A>T	XP_016884691.1:p.Lys4385Ter
XM_017029203.1:c.13153A>T	XP_016884692.1:p.Lys4385Ter
XM_017029204.1:c.13015A>T	XP_016884693.1:p.Lys4339Ter
XM_017029206.1:c.12862A>T	XP_016884695.1:p.Lys4288Ter
XM_024452322.1:c.13132A>T	XP_024308090.1:p.Lys4378Ter
NM_031407.7:c.12883A>T MANE Select	NP_113584.3:p.Lys4295Ter