Canonical Allele Identifier: CA516420285

Gene: HUWE1

Linked Data

• gnomAD v4: X-53534540-G-A
• MyVariant Identifiers: chrX:g.53561501G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534540G>A , CM000685.2:g.53534540G>A	GRCh38
NC_000023.10:g.53561501G>A , CM000685.1:g.53561501G>A	GRCh37
NC_000023.9:g.53578226G>A	NCBI36
NG_016261.2:g.157194C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12591C>T	ENSP00000515693.1:p.His4197=
ENST00000262854.11:c.12807C>T MANE Select	ENSP00000262854.6:p.His4269=
ENST00000262854.10:c.12807C>T	ENSP00000262854.6:p.His4269=
ENST00000342160.7:c.12807C>T	ENSP00000340648.3:p.His4269=
ENST00000426907.5:c.3274C>T
ENST00000488459.1:n.120C>T
ENST00000612484.4:c.12780C>T	ENSP00000479451.1:p.His4260=
NM_031407.6:c.12807C>T	NP_113584.3:p.His4269=
XM_005261965.2:c.12807C>T	XP_005262022.1:p.His4269=
XM_011530746.1:c.13056C>T	XP_011529048.1:p.His4352=
XM_011530747.1:c.13056C>T	XP_011529049.1:p.His4352=
XM_011530748.1:c.13056C>T	XP_011529050.1:p.His4352=
XM_011530749.1:c.13056C>T	XP_011529051.1:p.His4352=
XM_011530750.1:c.13056C>T	XP_011529052.1:p.His4352=
XM_011530751.1:c.13056C>T	XP_011529053.1:p.His4352=
XM_011530752.1:c.13053C>T	XP_011529054.1:p.His4351=
XM_011530753.1:c.13011C>T	XP_011529055.1:p.His4337=
XM_011530754.1:c.13008C>T	XP_011529056.1:p.His4336=
XM_011530755.1:c.13005C>T	XP_011529057.1:p.His4335=
XM_011530756.1:c.12957C>T	XP_011529058.1:p.His4319=
XM_011530757.1:c.12654C>T	XP_011529059.1:p.His4218=
XM_005261965.4:c.12807C>T	XP_005262022.1:p.His4269=
XM_011530751.2:c.13056C>T	XP_011529053.1:p.His4352=
XM_017029191.1:c.13188C>T	XP_016884680.1:p.His4396=
XM_017029192.1:c.13185C>T	XP_016884681.1:p.His4395=
XM_017029193.1:c.13167C>T	XP_016884682.1:p.His4389=
XM_017029194.1:c.13143C>T	XP_016884683.1:p.His4381=
XM_017029195.1:c.13140C>T	XP_016884684.1:p.His4380=
XM_017029196.1:c.13137C>T	XP_016884685.1:p.His4379=
XM_017029197.1:c.13089C>T	XP_016884686.1:p.His4363=
XM_017029198.2:c.13077C>T	XP_016884687.1:p.His4359=
XM_017029199.1:c.13077C>T	XP_016884688.1:p.His4359=
XM_017029200.1:c.13077C>T	XP_016884689.1:p.His4359=
XM_017029201.1:c.13077C>T	XP_016884690.1:p.His4359=
XM_017029202.1:c.13077C>T	XP_016884691.1:p.His4359=
XM_017029203.1:c.13077C>T	XP_016884692.1:p.His4359=
XM_017029204.1:c.12939C>T	XP_016884693.1:p.His4313=
XM_017029206.1:c.12786C>T	XP_016884695.1:p.His4262=
XM_024452322.1:c.13056C>T	XP_024308090.1:p.His4352=
NM_031407.7:c.12807C>T MANE Select	NP_113584.3:p.His4269=