Canonical Allele Identifier: CA413154718

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53564529A>G (hg19) ; chrX:g.53537568A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537568A>G , CM000685.2:g.53537568A>G	GRCh38
NC_000023.10:g.53564529A>G , CM000685.1:g.53564529A>G	GRCh37
NC_000023.9:g.53581254A>G	NCBI36
NG_016261.2:g.154166T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11909T>C	ENSP00000515693.1:p.Met3970Thr
ENST00000262854.11:c.12125T>C MANE Select	ENSP00000262854.6:p.Met4042Thr
ENST00000262854.10:c.12125T>C	ENSP00000262854.6:p.Met4042Thr
ENST00000342160.7:c.12125T>C	ENSP00000340648.3:p.Met4042Thr
ENST00000426907.5:c.2592T>C
ENST00000480438.1:n.260T>C
ENST00000612484.4:c.12098T>C	ENSP00000479451.1:p.Met4033Thr
NM_031407.6:c.12125T>C	NP_113584.3:p.Met4042Thr
XM_005261965.2:c.12125T>C	XP_005262022.1:p.Met4042Thr
XM_011530746.1:c.12374T>C	XP_011529048.1:p.Met4125Thr
XM_011530747.1:c.12374T>C	XP_011529049.1:p.Met4125Thr
XM_011530748.1:c.12374T>C	XP_011529050.1:p.Met4125Thr
XM_011530749.1:c.12374T>C	XP_011529051.1:p.Met4125Thr
XM_011530750.1:c.12374T>C	XP_011529052.1:p.Met4125Thr
XM_011530751.1:c.12374T>C	XP_011529053.1:p.Met4125Thr
XM_011530752.1:c.12371T>C	XP_011529054.1:p.Met4124Thr
XM_011530753.1:c.12329T>C	XP_011529055.1:p.Met4110Thr
XM_011530754.1:c.12326T>C	XP_011529056.1:p.Met4109Thr
XM_011530755.1:c.12323T>C	XP_011529057.1:p.Met4108Thr
XM_011530756.1:c.12275T>C	XP_011529058.1:p.Met4092Thr
XM_011530757.1:c.11972T>C	XP_011529059.1:p.Met3991Thr
XM_005261965.4:c.12125T>C	XP_005262022.1:p.Met4042Thr
XM_011530751.2:c.12374T>C	XP_011529053.1:p.Met4125Thr
XM_017029191.1:c.12506T>C	XP_016884680.1:p.Met4169Thr
XM_017029192.1:c.12503T>C	XP_016884681.1:p.Met4168Thr
XM_017029193.1:c.12485T>C	XP_016884682.1:p.Met4162Thr
XM_017029194.1:c.12461T>C	XP_016884683.1:p.Met4154Thr
XM_017029195.1:c.12458T>C	XP_016884684.1:p.Met4153Thr
XM_017029196.1:c.12455T>C	XP_016884685.1:p.Met4152Thr
XM_017029197.1:c.12407T>C	XP_016884686.1:p.Met4136Thr
XM_017029198.2:c.12395T>C	XP_016884687.1:p.Met4132Thr
XM_017029199.1:c.12395T>C	XP_016884688.1:p.Met4132Thr
XM_017029200.1:c.12395T>C	XP_016884689.1:p.Met4132Thr
XM_017029201.1:c.12395T>C	XP_016884690.1:p.Met4132Thr
XM_017029202.1:c.12395T>C	XP_016884691.1:p.Met4132Thr
XM_017029203.1:c.12395T>C	XP_016884692.1:p.Met4132Thr
XM_017029204.1:c.12257T>C	XP_016884693.1:p.Met4086Thr
XM_017029206.1:c.12104T>C	XP_016884695.1:p.Met4035Thr
XM_024452322.1:c.12374T>C	XP_024308090.1:p.Met4125Thr
NM_031407.7:c.12125T>C MANE Select	NP_113584.3:p.Met4042Thr