Canonical Allele Identifier: CA413146801

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561604G>C (hg19) ; chrX:g.53534643G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534643G>C , CM000685.2:g.53534643G>C	GRCh38
NC_000023.10:g.53561604G>C , CM000685.1:g.53561604G>C	GRCh37
NC_000023.9:g.53578329G>C	NCBI36
NG_016261.2:g.157091C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12488C>G	ENSP00000515693.1:p.Pro4163Arg
ENST00000262854.11:c.12704C>G MANE Select	ENSP00000262854.6:p.Pro4235Arg
ENST00000262854.10:c.12704C>G	ENSP00000262854.6:p.Pro4235Arg
ENST00000342160.7:c.12704C>G	ENSP00000340648.3:p.Pro4235Arg
ENST00000426907.5:c.3171C>G
ENST00000488459.1:n.17C>G
ENST00000612484.4:c.12677C>G	ENSP00000479451.1:p.Pro4226Arg
NM_031407.6:c.12704C>G	NP_113584.3:p.Pro4235Arg
XM_005261965.2:c.12704C>G	XP_005262022.1:p.Pro4235Arg
XM_011530746.1:c.12953C>G	XP_011529048.1:p.Pro4318Arg
XM_011530747.1:c.12953C>G	XP_011529049.1:p.Pro4318Arg
XM_011530748.1:c.12953C>G	XP_011529050.1:p.Pro4318Arg
XM_011530749.1:c.12953C>G	XP_011529051.1:p.Pro4318Arg
XM_011530750.1:c.12953C>G	XP_011529052.1:p.Pro4318Arg
XM_011530751.1:c.12953C>G	XP_011529053.1:p.Pro4318Arg
XM_011530752.1:c.12950C>G	XP_011529054.1:p.Pro4317Arg
XM_011530753.1:c.12908C>G	XP_011529055.1:p.Pro4303Arg
XM_011530754.1:c.12905C>G	XP_011529056.1:p.Pro4302Arg
XM_011530755.1:c.12902C>G	XP_011529057.1:p.Pro4301Arg
XM_011530756.1:c.12854C>G	XP_011529058.1:p.Pro4285Arg
XM_011530757.1:c.12551C>G	XP_011529059.1:p.Pro4184Arg
XM_005261965.4:c.12704C>G	XP_005262022.1:p.Pro4235Arg
XM_011530751.2:c.12953C>G	XP_011529053.1:p.Pro4318Arg
XM_017029191.1:c.13085C>G	XP_016884680.1:p.Pro4362Arg
XM_017029192.1:c.13082C>G	XP_016884681.1:p.Pro4361Arg
XM_017029193.1:c.13064C>G	XP_016884682.1:p.Pro4355Arg
XM_017029194.1:c.13040C>G	XP_016884683.1:p.Pro4347Arg
XM_017029195.1:c.13037C>G	XP_016884684.1:p.Pro4346Arg
XM_017029196.1:c.13034C>G	XP_016884685.1:p.Pro4345Arg
XM_017029197.1:c.12986C>G	XP_016884686.1:p.Pro4329Arg
XM_017029198.2:c.12974C>G	XP_016884687.1:p.Pro4325Arg
XM_017029199.1:c.12974C>G	XP_016884688.1:p.Pro4325Arg
XM_017029200.1:c.12974C>G	XP_016884689.1:p.Pro4325Arg
XM_017029201.1:c.12974C>G	XP_016884690.1:p.Pro4325Arg
XM_017029202.1:c.12974C>G	XP_016884691.1:p.Pro4325Arg
XM_017029203.1:c.12974C>G	XP_016884692.1:p.Pro4325Arg
XM_017029204.1:c.12836C>G	XP_016884693.1:p.Pro4279Arg
XM_017029206.1:c.12683C>G	XP_016884695.1:p.Pro4228Arg
XM_024452322.1:c.12953C>G	XP_024308090.1:p.Pro4318Arg
NM_031407.7:c.12704C>G MANE Select	NP_113584.3:p.Pro4235Arg