Canonical Allele Identifier: CA413154816

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53564538G>C (hg19) ; chrX:g.53537577G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537577G>C , CM000685.2:g.53537577G>C	GRCh38
NC_000023.10:g.53564538G>C , CM000685.1:g.53564538G>C	GRCh37
NC_000023.9:g.53581263G>C	NCBI36
NG_016261.2:g.154157C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11900C>G	ENSP00000515693.1:p.Pro3967Arg
ENST00000262854.11:c.12116C>G MANE Select	ENSP00000262854.6:p.Pro4039Arg
ENST00000262854.10:c.12116C>G	ENSP00000262854.6:p.Pro4039Arg
ENST00000342160.7:c.12116C>G	ENSP00000340648.3:p.Pro4039Arg
ENST00000426907.5:c.2583C>G
ENST00000480438.1:n.251C>G
ENST00000612484.4:c.12089C>G	ENSP00000479451.1:p.Pro4030Arg
NM_031407.6:c.12116C>G	NP_113584.3:p.Pro4039Arg
XM_005261965.2:c.12116C>G	XP_005262022.1:p.Pro4039Arg
XM_011530746.1:c.12365C>G	XP_011529048.1:p.Pro4122Arg
XM_011530747.1:c.12365C>G	XP_011529049.1:p.Pro4122Arg
XM_011530748.1:c.12365C>G	XP_011529050.1:p.Pro4122Arg
XM_011530749.1:c.12365C>G	XP_011529051.1:p.Pro4122Arg
XM_011530750.1:c.12365C>G	XP_011529052.1:p.Pro4122Arg
XM_011530751.1:c.12365C>G	XP_011529053.1:p.Pro4122Arg
XM_011530752.1:c.12362C>G	XP_011529054.1:p.Pro4121Arg
XM_011530753.1:c.12320C>G	XP_011529055.1:p.Pro4107Arg
XM_011530754.1:c.12317C>G	XP_011529056.1:p.Pro4106Arg
XM_011530755.1:c.12314C>G	XP_011529057.1:p.Pro4105Arg
XM_011530756.1:c.12266C>G	XP_011529058.1:p.Pro4089Arg
XM_011530757.1:c.11963C>G	XP_011529059.1:p.Pro3988Arg
XM_005261965.4:c.12116C>G	XP_005262022.1:p.Pro4039Arg
XM_011530751.2:c.12365C>G	XP_011529053.1:p.Pro4122Arg
XM_017029191.1:c.12497C>G	XP_016884680.1:p.Pro4166Arg
XM_017029192.1:c.12494C>G	XP_016884681.1:p.Pro4165Arg
XM_017029193.1:c.12476C>G	XP_016884682.1:p.Pro4159Arg
XM_017029194.1:c.12452C>G	XP_016884683.1:p.Pro4151Arg
XM_017029195.1:c.12449C>G	XP_016884684.1:p.Pro4150Arg
XM_017029196.1:c.12446C>G	XP_016884685.1:p.Pro4149Arg
XM_017029197.1:c.12398C>G	XP_016884686.1:p.Pro4133Arg
XM_017029198.2:c.12386C>G	XP_016884687.1:p.Pro4129Arg
XM_017029199.1:c.12386C>G	XP_016884688.1:p.Pro4129Arg
XM_017029200.1:c.12386C>G	XP_016884689.1:p.Pro4129Arg
XM_017029201.1:c.12386C>G	XP_016884690.1:p.Pro4129Arg
XM_017029202.1:c.12386C>G	XP_016884691.1:p.Pro4129Arg
XM_017029203.1:c.12386C>G	XP_016884692.1:p.Pro4129Arg
XM_017029204.1:c.12248C>G	XP_016884693.1:p.Pro4083Arg
XM_017029206.1:c.12095C>G	XP_016884695.1:p.Pro4032Arg
XM_024452322.1:c.12365C>G	XP_024308090.1:p.Pro4122Arg
NM_031407.7:c.12116C>G MANE Select	NP_113584.3:p.Pro4039Arg