Canonical Allele Identifier: CA2693811388

Gene: HUWE1

Linked Data

• gnomAD v4: X-53537713-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537713G>T , CM000685.2:g.53537713G>T	GRCh38
NC_000023.10:g.53564674G>T , CM000685.1:g.53564674G>T	GRCh37
NC_000023.9:g.53581399G>T	NCBI36
NG_016261.2:g.154021C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11781-17C>A	ENSP00000515693.1:n.11781-17C>A
ENST00000262854.11:c.11997-17C>A MANE Select	ENSP00000262854.6:n.11997-17C>A
ENST00000262854.10:c.11997-17C>A	ENSP00000262854.6:n.11997-17C>A
ENST00000342160.7:c.11997-17C>A	ENSP00000340648.3:n.11997-17C>A
ENST00000426907.5:c.2464-17C>A
ENST00000480438.1:n.132-17C>A
ENST00000612484.4:c.11970-17C>A	ENSP00000479451.1:n.11970-17C>A
NM_031407.6:c.11997-17C>A	NP_113584.3:n.11997-17C>A
XM_005261965.2:c.11997-17C>A	XP_005262022.1:n.11997-17C>A
XM_011530746.1:c.12246-17C>A	XP_011529048.1:n.12246-17C>A
XM_011530747.1:c.12246-17C>A	XP_011529049.1:n.12246-17C>A
XM_011530748.1:c.12246-17C>A	XP_011529050.1:n.12246-17C>A
XM_011530749.1:c.12246-17C>A	XP_011529051.1:n.12246-17C>A
XM_011530750.1:c.12246-17C>A	XP_011529052.1:n.12246-17C>A
XM_011530751.1:c.12246-17C>A	XP_011529053.1:n.12246-17C>A
XM_011530752.1:c.12243-17C>A	XP_011529054.1:n.12243-17C>A
XM_011530753.1:c.12201-17C>A	XP_011529055.1:n.12201-17C>A
XM_011530754.1:c.12198-17C>A	XP_011529056.1:n.12198-17C>A
XM_011530755.1:c.12195-17C>A	XP_011529057.1:n.12195-17C>A
XM_011530756.1:c.12147-17C>A	XP_011529058.1:n.12147-17C>A
XM_011530757.1:c.11844-17C>A	XP_011529059.1:n.11844-17C>A
XM_005261965.4:c.11997-17C>A	XP_005262022.1:n.11997-17C>A
XM_011530751.2:c.12246-17C>A	XP_011529053.1:n.12246-17C>A
XM_017029191.1:c.12378-17C>A	XP_016884680.1:n.12378-17C>A
XM_017029192.1:c.12375-17C>A	XP_016884681.1:n.12375-17C>A
XM_017029193.1:c.12357-17C>A	XP_016884682.1:n.12357-17C>A
XM_017029194.1:c.12333-17C>A	XP_016884683.1:n.12333-17C>A
XM_017029195.1:c.12330-17C>A	XP_016884684.1:n.12330-17C>A
XM_017029196.1:c.12327-17C>A	XP_016884685.1:n.12327-17C>A
XM_017029197.1:c.12279-17C>A	XP_016884686.1:n.12279-17C>A
XM_017029198.2:c.12267-17C>A	XP_016884687.1:n.12267-17C>A
XM_017029199.1:c.12267-17C>A	XP_016884688.1:n.12267-17C>A
XM_017029200.1:c.12267-17C>A	XP_016884689.1:n.12267-17C>A
XM_017029201.1:c.12267-17C>A	XP_016884690.1:n.12267-17C>A
XM_017029202.1:c.12267-17C>A	XP_016884691.1:n.12267-17C>A
XM_017029203.1:c.12267-17C>A	XP_016884692.1:n.12267-17C>A
XM_017029204.1:c.12129-17C>A	XP_016884693.1:n.12129-17C>A
XM_017029206.1:c.11976-17C>A	XP_016884695.1:n.11976-17C>A
XM_024452322.1:c.12246-17C>A	XP_024308090.1:n.12246-17C>A
NM_031407.7:c.11997-17C>A MANE Select	NP_113584.3:n.11997-17C>A