Canonical Allele Identifier: CA2579617596

Gene: HUWE1

Linked Data

• gnomAD v4: X-53568640-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53568640G>T , CM000685.2:g.53568640G>T	GRCh38
NC_000023.10:g.53595600G>T , CM000685.1:g.53595600G>T	GRCh37
NC_000023.9:g.53612325G>T	NCBI36
NG_016261.2:g.123094C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000704099.1:c.6704+52C>A	ENSP00000515693.1:n.6704+52C>A
ENST00000262854.11:c.6707+52C>A MANE Select	ENSP00000262854.6:n.6707+52C>A
ENST00000262854.10:c.6707+52C>A	ENSP00000262854.6:n.6707+52C>A
ENST00000342160.7:c.6707+52C>A	ENSP00000340648.3:n.6707+52C>A
ENST00000612484.4:c.6680+52C>A	ENSP00000479451.1:n.6680+52C>A
NM_031407.6:c.6707+52C>A	NP_113584.3:n.6707+52C>A
XM_005261965.2:c.6707+52C>A	XP_005262022.1:n.6707+52C>A
XM_011530746.1:c.6956+52C>A	XP_011529048.1:n.6956+52C>A
XM_011530747.1:c.6956+52C>A	XP_011529049.1:n.6956+52C>A
XM_011530748.1:c.6956+52C>A	XP_011529050.1:n.6956+52C>A
XM_011530749.1:c.6956+52C>A	XP_011529051.1:n.6956+52C>A
XM_011530750.1:c.6956+52C>A	XP_011529052.1:n.6956+52C>A
XM_011530751.1:c.6956+52C>A	XP_011529053.1:n.6956+52C>A
XM_011530752.1:c.6953+52C>A	XP_011529054.1:n.6953+52C>A
XM_011530753.1:c.6956+52C>A	XP_011529055.1:n.6956+52C>A
XM_011530754.1:c.6956+52C>A	XP_011529056.1:n.6956+52C>A
XM_011530755.1:c.6953+52C>A	XP_011529057.1:n.6953+52C>A
XM_011530756.1:c.6956+52C>A	XP_011529058.1:n.6956+52C>A
XM_011530757.1:c.6956+52C>A	XP_011529059.1:n.6956+52C>A
XM_011530758.1:c.6956+52C>A	XP_011529060.1:n.6956+52C>A
XR_938360.1:n.7391+52C>A
XM_005261965.4:c.6707+52C>A	XP_005262022.1:n.6707+52C>A
XM_011530751.2:c.6956+52C>A	XP_011529053.1:n.6956+52C>A
XM_017029191.1:c.7088+52C>A	XP_016884680.1:n.7088+52C>A
XM_017029192.1:c.7085+52C>A	XP_016884681.1:n.7085+52C>A
XM_017029193.1:c.7067+52C>A	XP_016884682.1:n.7067+52C>A
XM_017029194.1:c.7088+52C>A	XP_016884683.1:n.7088+52C>A
XM_017029195.1:c.7088+52C>A	XP_016884684.1:n.7088+52C>A
XM_017029196.1:c.7085+52C>A	XP_016884685.1:n.7085+52C>A
XM_017029197.1:c.7088+52C>A	XP_016884686.1:n.7088+52C>A
XM_017029198.2:c.6977+52C>A	XP_016884687.1:n.6977+52C>A
XM_017029199.1:c.6977+52C>A	XP_016884688.1:n.6977+52C>A
XM_017029200.1:c.6977+52C>A	XP_016884689.1:n.6977+52C>A
XM_017029201.1:c.6977+52C>A	XP_016884690.1:n.6977+52C>A
XM_017029202.1:c.6977+52C>A	XP_016884691.1:n.6977+52C>A
XM_017029203.1:c.6977+52C>A	XP_016884692.1:n.6977+52C>A
XM_017029204.1:c.6839+52C>A	XP_016884693.1:n.6839+52C>A
XM_017029206.1:c.7088+52C>A	XP_016884695.1:n.7088+52C>A
XM_024452322.1:c.6956+52C>A	XP_024308090.1:n.6956+52C>A
NM_031407.7:c.6707+52C>A MANE Select	NP_113584.3:n.6707+52C>A