Canonical Allele Identifier: CA413145499

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561151C>A (hg19) ; chrX:g.53534190C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534190C>A , CM000685.2:g.53534190C>A	GRCh38
NC_000023.10:g.53561151C>A , CM000685.1:g.53561151C>A	GRCh37
NC_000023.9:g.53577876C>A	NCBI36
NG_016261.2:g.157544G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12623G>T	ENSP00000515693.1:p.Trp4208Leu
ENST00000262854.11:c.12839G>T MANE Select	ENSP00000262854.6:p.Trp4280Leu
ENST00000262854.10:c.12839G>T	ENSP00000262854.6:p.Trp4280Leu
ENST00000342160.7:c.12839G>T	ENSP00000340648.3:p.Trp4280Leu
ENST00000426907.5:c.3306G>T
ENST00000488459.1:n.152G>T
ENST00000612484.4:c.12812G>T	ENSP00000479451.1:p.Trp4271Leu
NM_031407.6:c.12839G>T	NP_113584.3:p.Trp4280Leu
XM_005261965.2:c.12839G>T	XP_005262022.1:p.Trp4280Leu
XM_011530746.1:c.13088G>T	XP_011529048.1:p.Trp4363Leu
XM_011530747.1:c.13088G>T	XP_011529049.1:p.Trp4363Leu
XM_011530748.1:c.13088G>T	XP_011529050.1:p.Trp4363Leu
XM_011530749.1:c.13088G>T	XP_011529051.1:p.Trp4363Leu
XM_011530750.1:c.13088G>T	XP_011529052.1:p.Trp4363Leu
XM_011530751.1:c.13088G>T	XP_011529053.1:p.Trp4363Leu
XM_011530752.1:c.13085G>T	XP_011529054.1:p.Trp4362Leu
XM_011530753.1:c.13043G>T	XP_011529055.1:p.Trp4348Leu
XM_011530754.1:c.13040G>T	XP_011529056.1:p.Trp4347Leu
XM_011530755.1:c.13037G>T	XP_011529057.1:p.Trp4346Leu
XM_011530756.1:c.12989G>T	XP_011529058.1:p.Trp4330Leu
XM_011530757.1:c.12686G>T	XP_011529059.1:p.Trp4229Leu
XM_005261965.4:c.12839G>T	XP_005262022.1:p.Trp4280Leu
XM_011530751.2:c.13088G>T	XP_011529053.1:p.Trp4363Leu
XM_017029191.1:c.13220G>T	XP_016884680.1:p.Trp4407Leu
XM_017029192.1:c.13217G>T	XP_016884681.1:p.Trp4406Leu
XM_017029193.1:c.13199G>T	XP_016884682.1:p.Trp4400Leu
XM_017029194.1:c.13175G>T	XP_016884683.1:p.Trp4392Leu
XM_017029195.1:c.13172G>T	XP_016884684.1:p.Trp4391Leu
XM_017029196.1:c.13169G>T	XP_016884685.1:p.Trp4390Leu
XM_017029197.1:c.13121G>T	XP_016884686.1:p.Trp4374Leu
XM_017029198.2:c.13109G>T	XP_016884687.1:p.Trp4370Leu
XM_017029199.1:c.13109G>T	XP_016884688.1:p.Trp4370Leu
XM_017029200.1:c.13109G>T	XP_016884689.1:p.Trp4370Leu
XM_017029201.1:c.13109G>T	XP_016884690.1:p.Trp4370Leu
XM_017029202.1:c.13109G>T	XP_016884691.1:p.Trp4370Leu
XM_017029203.1:c.13109G>T	XP_016884692.1:p.Trp4370Leu
XM_017029204.1:c.12971G>T	XP_016884693.1:p.Trp4324Leu
XM_017029206.1:c.12818G>T	XP_016884695.1:p.Trp4273Leu
XM_024452322.1:c.13088G>T	XP_024308090.1:p.Trp4363Leu
NM_031407.7:c.12839G>T MANE Select	NP_113584.3:p.Trp4280Leu