Canonical Allele Identifier: CA516418783

Gene: HUWE1

Linked Data

• gnomAD v4: X-53534087-G-C
• MyVariant Identifiers: chrX:g.53561048G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534087G>C , CM000685.2:g.53534087G>C	GRCh38
NC_000023.10:g.53561048G>C , CM000685.1:g.53561048G>C	GRCh37
NC_000023.9:g.53577773G>C	NCBI36
NG_016261.2:g.157647C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12726C>G	ENSP00000515693.1:p.Leu4242=
ENST00000262854.11:c.12942C>G MANE Select	ENSP00000262854.6:p.Leu4314=
ENST00000262854.10:c.12942C>G	ENSP00000262854.6:p.Leu4314=
ENST00000342160.7:c.12942C>G	ENSP00000340648.3:p.Leu4314=
ENST00000426907.5:c.3409C>G
ENST00000488459.1:n.255C>G
ENST00000612484.4:c.12915C>G	ENSP00000479451.1:p.Leu4305=
NM_031407.6:c.12942C>G	NP_113584.3:p.Leu4314=
XM_005261965.2:c.12942C>G	XP_005262022.1:p.Leu4314=
XM_011530746.1:c.13191C>G	XP_011529048.1:p.Leu4397=
XM_011530747.1:c.13191C>G	XP_011529049.1:p.Leu4397=
XM_011530748.1:c.13191C>G	XP_011529050.1:p.Leu4397=
XM_011530749.1:c.13191C>G	XP_011529051.1:p.Leu4397=
XM_011530750.1:c.13191C>G	XP_011529052.1:p.Leu4397=
XM_011530751.1:c.13191C>G	XP_011529053.1:p.Leu4397=
XM_011530752.1:c.13188C>G	XP_011529054.1:p.Leu4396=
XM_011530753.1:c.13146C>G	XP_011529055.1:p.Leu4382=
XM_011530754.1:c.13143C>G	XP_011529056.1:p.Leu4381=
XM_011530755.1:c.13140C>G	XP_011529057.1:p.Leu4380=
XM_011530756.1:c.13092C>G	XP_011529058.1:p.Leu4364=
XM_011530757.1:c.12789C>G	XP_011529059.1:p.Leu4263=
XM_005261965.4:c.12942C>G	XP_005262022.1:p.Leu4314=
XM_011530751.2:c.13191C>G	XP_011529053.1:p.Leu4397=
XM_017029191.1:c.13323C>G	XP_016884680.1:p.Leu4441=
XM_017029192.1:c.13320C>G	XP_016884681.1:p.Leu4440=
XM_017029193.1:c.13302C>G	XP_016884682.1:p.Leu4434=
XM_017029194.1:c.13278C>G	XP_016884683.1:p.Leu4426=
XM_017029195.1:c.13275C>G	XP_016884684.1:p.Leu4425=
XM_017029196.1:c.13272C>G	XP_016884685.1:p.Leu4424=
XM_017029197.1:c.13224C>G	XP_016884686.1:p.Leu4408=
XM_017029198.2:c.13212C>G	XP_016884687.1:p.Leu4404=
XM_017029199.1:c.13212C>G	XP_016884688.1:p.Leu4404=
XM_017029200.1:c.13212C>G	XP_016884689.1:p.Leu4404=
XM_017029201.1:c.13212C>G	XP_016884690.1:p.Leu4404=
XM_017029202.1:c.13212C>G	XP_016884691.1:p.Leu4404=
XM_017029203.1:c.13212C>G	XP_016884692.1:p.Leu4404=
XM_017029204.1:c.13074C>G	XP_016884693.1:p.Leu4358=
XM_017029206.1:c.12921C>G	XP_016884695.1:p.Leu4307=
XM_024452322.1:c.13191C>G	XP_024308090.1:p.Leu4397=
NM_031407.7:c.12942C>G MANE Select	NP_113584.3:p.Leu4314=