Canonical Allele Identifier: CA413154824

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53564539G>C (hg19) ; chrX:g.53537578G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537578G>C , CM000685.2:g.53537578G>C	GRCh38
NC_000023.10:g.53564539G>C , CM000685.1:g.53564539G>C	GRCh37
NC_000023.9:g.53581264G>C	NCBI36
NG_016261.2:g.154156C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11899C>G	ENSP00000515693.1:p.Pro3967Ala
ENST00000262854.11:c.12115C>G MANE Select	ENSP00000262854.6:p.Pro4039Ala
ENST00000262854.10:c.12115C>G	ENSP00000262854.6:p.Pro4039Ala
ENST00000342160.7:c.12115C>G	ENSP00000340648.3:p.Pro4039Ala
ENST00000426907.5:c.2582C>G
ENST00000480438.1:n.250C>G
ENST00000612484.4:c.12088C>G	ENSP00000479451.1:p.Pro4030Ala
NM_031407.6:c.12115C>G	NP_113584.3:p.Pro4039Ala
XM_005261965.2:c.12115C>G	XP_005262022.1:p.Pro4039Ala
XM_011530746.1:c.12364C>G	XP_011529048.1:p.Pro4122Ala
XM_011530747.1:c.12364C>G	XP_011529049.1:p.Pro4122Ala
XM_011530748.1:c.12364C>G	XP_011529050.1:p.Pro4122Ala
XM_011530749.1:c.12364C>G	XP_011529051.1:p.Pro4122Ala
XM_011530750.1:c.12364C>G	XP_011529052.1:p.Pro4122Ala
XM_011530751.1:c.12364C>G	XP_011529053.1:p.Pro4122Ala
XM_011530752.1:c.12361C>G	XP_011529054.1:p.Pro4121Ala
XM_011530753.1:c.12319C>G	XP_011529055.1:p.Pro4107Ala
XM_011530754.1:c.12316C>G	XP_011529056.1:p.Pro4106Ala
XM_011530755.1:c.12313C>G	XP_011529057.1:p.Pro4105Ala
XM_011530756.1:c.12265C>G	XP_011529058.1:p.Pro4089Ala
XM_011530757.1:c.11962C>G	XP_011529059.1:p.Pro3988Ala
XM_005261965.4:c.12115C>G	XP_005262022.1:p.Pro4039Ala
XM_011530751.2:c.12364C>G	XP_011529053.1:p.Pro4122Ala
XM_017029191.1:c.12496C>G	XP_016884680.1:p.Pro4166Ala
XM_017029192.1:c.12493C>G	XP_016884681.1:p.Pro4165Ala
XM_017029193.1:c.12475C>G	XP_016884682.1:p.Pro4159Ala
XM_017029194.1:c.12451C>G	XP_016884683.1:p.Pro4151Ala
XM_017029195.1:c.12448C>G	XP_016884684.1:p.Pro4150Ala
XM_017029196.1:c.12445C>G	XP_016884685.1:p.Pro4149Ala
XM_017029197.1:c.12397C>G	XP_016884686.1:p.Pro4133Ala
XM_017029198.2:c.12385C>G	XP_016884687.1:p.Pro4129Ala
XM_017029199.1:c.12385C>G	XP_016884688.1:p.Pro4129Ala
XM_017029200.1:c.12385C>G	XP_016884689.1:p.Pro4129Ala
XM_017029201.1:c.12385C>G	XP_016884690.1:p.Pro4129Ala
XM_017029202.1:c.12385C>G	XP_016884691.1:p.Pro4129Ala
XM_017029203.1:c.12385C>G	XP_016884692.1:p.Pro4129Ala
XM_017029204.1:c.12247C>G	XP_016884693.1:p.Pro4083Ala
XM_017029206.1:c.12094C>G	XP_016884695.1:p.Pro4032Ala
XM_024452322.1:c.12364C>G	XP_024308090.1:p.Pro4122Ala
NM_031407.7:c.12115C>G MANE Select	NP_113584.3:p.Pro4039Ala