Canonical Allele Identifier: CA413146349

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561547A>G (hg19) ; chrX:g.53534586A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534586A>G , CM000685.2:g.53534586A>G	GRCh38
NC_000023.10:g.53561547A>G , CM000685.1:g.53561547A>G	GRCh37
NC_000023.9:g.53578272A>G	NCBI36
NG_016261.2:g.157148T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12545T>C	ENSP00000515693.1:p.Leu4182Pro
ENST00000262854.11:c.12761T>C MANE Select	ENSP00000262854.6:p.Leu4254Pro
ENST00000262854.10:c.12761T>C	ENSP00000262854.6:p.Leu4254Pro
ENST00000342160.7:c.12761T>C	ENSP00000340648.3:p.Leu4254Pro
ENST00000426907.5:c.3228T>C
ENST00000488459.1:n.74T>C
ENST00000612484.4:c.12734T>C	ENSP00000479451.1:p.Leu4245Pro
NM_031407.6:c.12761T>C	NP_113584.3:p.Leu4254Pro
XM_005261965.2:c.12761T>C	XP_005262022.1:p.Leu4254Pro
XM_011530746.1:c.13010T>C	XP_011529048.1:p.Leu4337Pro
XM_011530747.1:c.13010T>C	XP_011529049.1:p.Leu4337Pro
XM_011530748.1:c.13010T>C	XP_011529050.1:p.Leu4337Pro
XM_011530749.1:c.13010T>C	XP_011529051.1:p.Leu4337Pro
XM_011530750.1:c.13010T>C	XP_011529052.1:p.Leu4337Pro
XM_011530751.1:c.13010T>C	XP_011529053.1:p.Leu4337Pro
XM_011530752.1:c.13007T>C	XP_011529054.1:p.Leu4336Pro
XM_011530753.1:c.12965T>C	XP_011529055.1:p.Leu4322Pro
XM_011530754.1:c.12962T>C	XP_011529056.1:p.Leu4321Pro
XM_011530755.1:c.12959T>C	XP_011529057.1:p.Leu4320Pro
XM_011530756.1:c.12911T>C	XP_011529058.1:p.Leu4304Pro
XM_011530757.1:c.12608T>C	XP_011529059.1:p.Leu4203Pro
XM_005261965.4:c.12761T>C	XP_005262022.1:p.Leu4254Pro
XM_011530751.2:c.13010T>C	XP_011529053.1:p.Leu4337Pro
XM_017029191.1:c.13142T>C	XP_016884680.1:p.Leu4381Pro
XM_017029192.1:c.13139T>C	XP_016884681.1:p.Leu4380Pro
XM_017029193.1:c.13121T>C	XP_016884682.1:p.Leu4374Pro
XM_017029194.1:c.13097T>C	XP_016884683.1:p.Leu4366Pro
XM_017029195.1:c.13094T>C	XP_016884684.1:p.Leu4365Pro
XM_017029196.1:c.13091T>C	XP_016884685.1:p.Leu4364Pro
XM_017029197.1:c.13043T>C	XP_016884686.1:p.Leu4348Pro
XM_017029198.2:c.13031T>C	XP_016884687.1:p.Leu4344Pro
XM_017029199.1:c.13031T>C	XP_016884688.1:p.Leu4344Pro
XM_017029200.1:c.13031T>C	XP_016884689.1:p.Leu4344Pro
XM_017029201.1:c.13031T>C	XP_016884690.1:p.Leu4344Pro
XM_017029202.1:c.13031T>C	XP_016884691.1:p.Leu4344Pro
XM_017029203.1:c.13031T>C	XP_016884692.1:p.Leu4344Pro
XM_017029204.1:c.12893T>C	XP_016884693.1:p.Leu4298Pro
XM_017029206.1:c.12740T>C	XP_016884695.1:p.Leu4247Pro
XM_024452322.1:c.13010T>C	XP_024308090.1:p.Leu4337Pro
NM_031407.7:c.12761T>C MANE Select	NP_113584.3:p.Leu4254Pro