Canonical Allele Identifier: CA413143808

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561011G>A (hg19) ; chrX:g.53534050G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534050G>A , CM000685.2:g.53534050G>A	GRCh38
NC_000023.10:g.53561011G>A , CM000685.1:g.53561011G>A	GRCh37
NC_000023.9:g.53577736G>A	NCBI36
NG_016261.2:g.157684C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12763C>T	ENSP00000515693.1:p.Arg4255Ter
ENST00000262854.11:c.12979C>T MANE Select	ENSP00000262854.6:p.Arg4327Ter
ENST00000262854.10:c.12979C>T	ENSP00000262854.6:p.Arg4327Ter
ENST00000342160.7:c.12979C>T	ENSP00000340648.3:p.Arg4327Ter
ENST00000426907.5:c.3446C>T
ENST00000488459.1:n.292C>T
ENST00000612484.4:c.12952C>T	ENSP00000479451.1:p.Arg4318Ter
NM_031407.6:c.12979C>T	NP_113584.3:p.Arg4327Ter
XM_005261965.2:c.12979C>T	XP_005262022.1:p.Arg4327Ter
XM_011530746.1:c.13228C>T	XP_011529048.1:p.Arg4410Ter
XM_011530747.1:c.13228C>T	XP_011529049.1:p.Arg4410Ter
XM_011530748.1:c.13228C>T	XP_011529050.1:p.Arg4410Ter
XM_011530749.1:c.13228C>T	XP_011529051.1:p.Arg4410Ter
XM_011530750.1:c.13228C>T	XP_011529052.1:p.Arg4410Ter
XM_011530751.1:c.13228C>T	XP_011529053.1:p.Arg4410Ter
XM_011530752.1:c.13225C>T	XP_011529054.1:p.Arg4409Ter
XM_011530753.1:c.13183C>T	XP_011529055.1:p.Arg4395Ter
XM_011530754.1:c.13180C>T	XP_011529056.1:p.Arg4394Ter
XM_011530755.1:c.13177C>T	XP_011529057.1:p.Arg4393Ter
XM_011530756.1:c.13129C>T	XP_011529058.1:p.Arg4377Ter
XM_011530757.1:c.12826C>T	XP_011529059.1:p.Arg4276Ter
XM_005261965.4:c.12979C>T	XP_005262022.1:p.Arg4327Ter
XM_011530751.2:c.13228C>T	XP_011529053.1:p.Arg4410Ter
XM_017029191.1:c.13360C>T	XP_016884680.1:p.Arg4454Ter
XM_017029192.1:c.13357C>T	XP_016884681.1:p.Arg4453Ter
XM_017029193.1:c.13339C>T	XP_016884682.1:p.Arg4447Ter
XM_017029194.1:c.13315C>T	XP_016884683.1:p.Arg4439Ter
XM_017029195.1:c.13312C>T	XP_016884684.1:p.Arg4438Ter
XM_017029196.1:c.13309C>T	XP_016884685.1:p.Arg4437Ter
XM_017029197.1:c.13261C>T	XP_016884686.1:p.Arg4421Ter
XM_017029198.2:c.13249C>T	XP_016884687.1:p.Arg4417Ter
XM_017029199.1:c.13249C>T	XP_016884688.1:p.Arg4417Ter
XM_017029200.1:c.13249C>T	XP_016884689.1:p.Arg4417Ter
XM_017029201.1:c.13249C>T	XP_016884690.1:p.Arg4417Ter
XM_017029202.1:c.13249C>T	XP_016884691.1:p.Arg4417Ter
XM_017029203.1:c.13249C>T	XP_016884692.1:p.Arg4417Ter
XM_017029204.1:c.13111C>T	XP_016884693.1:p.Arg4371Ter
XM_017029206.1:c.12958C>T	XP_016884695.1:p.Arg4320Ter
XM_024452322.1:c.13228C>T	XP_024308090.1:p.Arg4410Ter
NM_031407.7:c.12979C>T MANE Select	NP_113584.3:p.Arg4327Ter