Canonical Allele Identifier: CA516418965

Gene: HUWE1

Linked Data

• gnomAD v4: X-53534117-G-C
• MyVariant Identifiers: chrX:g.53561078G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534117G>C , CM000685.2:g.53534117G>C	GRCh38
NC_000023.10:g.53561078G>C , CM000685.1:g.53561078G>C	GRCh37
NC_000023.9:g.53577803G>C	NCBI36
NG_016261.2:g.157617C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12696C>G	ENSP00000515693.1:p.Ser4232=
ENST00000262854.11:c.12912C>G MANE Select	ENSP00000262854.6:p.Ser4304=
ENST00000262854.10:c.12912C>G	ENSP00000262854.6:p.Ser4304=
ENST00000342160.7:c.12912C>G	ENSP00000340648.3:p.Ser4304=
ENST00000426907.5:c.3379C>G
ENST00000488459.1:n.225C>G
ENST00000612484.4:c.12885C>G	ENSP00000479451.1:p.Ser4295=
NM_031407.6:c.12912C>G	NP_113584.3:p.Ser4304=
XM_005261965.2:c.12912C>G	XP_005262022.1:p.Ser4304=
XM_011530746.1:c.13161C>G	XP_011529048.1:p.Ser4387=
XM_011530747.1:c.13161C>G	XP_011529049.1:p.Ser4387=
XM_011530748.1:c.13161C>G	XP_011529050.1:p.Ser4387=
XM_011530749.1:c.13161C>G	XP_011529051.1:p.Ser4387=
XM_011530750.1:c.13161C>G	XP_011529052.1:p.Ser4387=
XM_011530751.1:c.13161C>G	XP_011529053.1:p.Ser4387=
XM_011530752.1:c.13158C>G	XP_011529054.1:p.Ser4386=
XM_011530753.1:c.13116C>G	XP_011529055.1:p.Ser4372=
XM_011530754.1:c.13113C>G	XP_011529056.1:p.Ser4371=
XM_011530755.1:c.13110C>G	XP_011529057.1:p.Ser4370=
XM_011530756.1:c.13062C>G	XP_011529058.1:p.Ser4354=
XM_011530757.1:c.12759C>G	XP_011529059.1:p.Ser4253=
XM_005261965.4:c.12912C>G	XP_005262022.1:p.Ser4304=
XM_011530751.2:c.13161C>G	XP_011529053.1:p.Ser4387=
XM_017029191.1:c.13293C>G	XP_016884680.1:p.Ser4431=
XM_017029192.1:c.13290C>G	XP_016884681.1:p.Ser4430=
XM_017029193.1:c.13272C>G	XP_016884682.1:p.Ser4424=
XM_017029194.1:c.13248C>G	XP_016884683.1:p.Ser4416=
XM_017029195.1:c.13245C>G	XP_016884684.1:p.Ser4415=
XM_017029196.1:c.13242C>G	XP_016884685.1:p.Ser4414=
XM_017029197.1:c.13194C>G	XP_016884686.1:p.Ser4398=
XM_017029198.2:c.13182C>G	XP_016884687.1:p.Ser4394=
XM_017029199.1:c.13182C>G	XP_016884688.1:p.Ser4394=
XM_017029200.1:c.13182C>G	XP_016884689.1:p.Ser4394=
XM_017029201.1:c.13182C>G	XP_016884690.1:p.Ser4394=
XM_017029202.1:c.13182C>G	XP_016884691.1:p.Ser4394=
XM_017029203.1:c.13182C>G	XP_016884692.1:p.Ser4394=
XM_017029204.1:c.13044C>G	XP_016884693.1:p.Ser4348=
XM_017029206.1:c.12891C>G	XP_016884695.1:p.Ser4297=
XM_024452322.1:c.13161C>G	XP_024308090.1:p.Ser4387=
NM_031407.7:c.12912C>G MANE Select	NP_113584.3:p.Ser4304=