Canonical Allele Identifier: CA413143694

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53560996T>G (hg19) ; chrX:g.53534035T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534035T>G , CM000685.2:g.53534035T>G	GRCh38
NC_000023.10:g.53560996T>G , CM000685.1:g.53560996T>G	GRCh37
NC_000023.9:g.53577721T>G	NCBI36
NG_016261.2:g.157699A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12778A>C	ENSP00000515693.1:p.Thr4260Pro
ENST00000262854.11:c.12994A>C MANE Select	ENSP00000262854.6:p.Thr4332Pro
ENST00000262854.10:c.12994A>C	ENSP00000262854.6:p.Thr4332Pro
ENST00000342160.7:c.12994A>C	ENSP00000340648.3:p.Thr4332Pro
ENST00000426907.5:c.3461A>C
ENST00000488459.1:n.307A>C
ENST00000612484.4:c.12967A>C	ENSP00000479451.1:p.Thr4323Pro
NM_031407.6:c.12994A>C	NP_113584.3:p.Thr4332Pro
XM_005261965.2:c.12994A>C	XP_005262022.1:p.Thr4332Pro
XM_011530746.1:c.13243A>C	XP_011529048.1:p.Thr4415Pro
XM_011530747.1:c.13243A>C	XP_011529049.1:p.Thr4415Pro
XM_011530748.1:c.13243A>C	XP_011529050.1:p.Thr4415Pro
XM_011530749.1:c.13243A>C	XP_011529051.1:p.Thr4415Pro
XM_011530750.1:c.13243A>C	XP_011529052.1:p.Thr4415Pro
XM_011530751.1:c.13243A>C	XP_011529053.1:p.Thr4415Pro
XM_011530752.1:c.13240A>C	XP_011529054.1:p.Thr4414Pro
XM_011530753.1:c.13198A>C	XP_011529055.1:p.Thr4400Pro
XM_011530754.1:c.13195A>C	XP_011529056.1:p.Thr4399Pro
XM_011530755.1:c.13192A>C	XP_011529057.1:p.Thr4398Pro
XM_011530756.1:c.13144A>C	XP_011529058.1:p.Thr4382Pro
XM_011530757.1:c.12841A>C	XP_011529059.1:p.Thr4281Pro
XM_005261965.4:c.12994A>C	XP_005262022.1:p.Thr4332Pro
XM_011530751.2:c.13243A>C	XP_011529053.1:p.Thr4415Pro
XM_017029191.1:c.13375A>C	XP_016884680.1:p.Thr4459Pro
XM_017029192.1:c.13372A>C	XP_016884681.1:p.Thr4458Pro
XM_017029193.1:c.13354A>C	XP_016884682.1:p.Thr4452Pro
XM_017029194.1:c.13330A>C	XP_016884683.1:p.Thr4444Pro
XM_017029195.1:c.13327A>C	XP_016884684.1:p.Thr4443Pro
XM_017029196.1:c.13324A>C	XP_016884685.1:p.Thr4442Pro
XM_017029197.1:c.13276A>C	XP_016884686.1:p.Thr4426Pro
XM_017029198.2:c.13264A>C	XP_016884687.1:p.Thr4422Pro
XM_017029199.1:c.13264A>C	XP_016884688.1:p.Thr4422Pro
XM_017029200.1:c.13264A>C	XP_016884689.1:p.Thr4422Pro
XM_017029201.1:c.13264A>C	XP_016884690.1:p.Thr4422Pro
XM_017029202.1:c.13264A>C	XP_016884691.1:p.Thr4422Pro
XM_017029203.1:c.13264A>C	XP_016884692.1:p.Thr4422Pro
XM_017029204.1:c.13126A>C	XP_016884693.1:p.Thr4376Pro
XM_017029206.1:c.12973A>C	XP_016884695.1:p.Thr4325Pro
XM_024452322.1:c.13243A>C	XP_024308090.1:p.Thr4415Pro
NM_031407.7:c.12994A>C MANE Select	NP_113584.3:p.Thr4332Pro