Canonical Allele Identifier: CA413149417

Gene: HUWE1

Linked Data

• ClinVar Variation Id: 375722
• ClinVar RCV Id: RCV000497693 ; RCV001200498 ; RCV001260731
• dbSNP Id: rs1556912828
• MyVariant Identifiers: chrX:g.53563170G>C (hg19) ; chrX:g.53536209G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53536209G>C , CM000685.2:g.53536209G>C	GRCh38
NC_000023.10:g.53563170G>C , CM000685.1:g.53563170G>C	GRCh37
NC_000023.9:g.53579895G>C	NCBI36
NG_016261.2:g.155525C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12253C>G	ENSP00000515693.1:p.Leu4085Val
ENST00000262854.11:c.12469C>G MANE Select	ENSP00000262854.6:p.Leu4157Val
ENST00000262854.10:c.12469C>G	ENSP00000262854.6:p.Leu4157Val
ENST00000342160.7:c.12469C>G	ENSP00000340648.3:p.Leu4157Val
ENST00000426907.5:c.2936C>G
ENST00000474971.1:n.316C>G
ENST00000612484.4:c.12442C>G	ENSP00000479451.1:p.Leu4148Val
NM_031407.6:c.12469C>G	NP_113584.3:p.Leu4157Val
XM_005261965.2:c.12469C>G	XP_005262022.1:p.Leu4157Val
XM_011530746.1:c.12718C>G	XP_011529048.1:p.Leu4240Val
XM_011530747.1:c.12718C>G	XP_011529049.1:p.Leu4240Val
XM_011530748.1:c.12718C>G	XP_011529050.1:p.Leu4240Val
XM_011530749.1:c.12718C>G	XP_011529051.1:p.Leu4240Val
XM_011530750.1:c.12718C>G	XP_011529052.1:p.Leu4240Val
XM_011530751.1:c.12718C>G	XP_011529053.1:p.Leu4240Val
XM_011530752.1:c.12715C>G	XP_011529054.1:p.Leu4239Val
XM_011530753.1:c.12673C>G	XP_011529055.1:p.Leu4225Val
XM_011530754.1:c.12670C>G	XP_011529056.1:p.Leu4224Val
XM_011530755.1:c.12667C>G	XP_011529057.1:p.Leu4223Val
XM_011530756.1:c.12619C>G	XP_011529058.1:p.Leu4207Val
XM_011530757.1:c.12316C>G	XP_011529059.1:p.Leu4106Val
XM_005261965.4:c.12469C>G	XP_005262022.1:p.Leu4157Val
XM_011530751.2:c.12718C>G	XP_011529053.1:p.Leu4240Val
XM_017029191.1:c.12850C>G	XP_016884680.1:p.Leu4284Val
XM_017029192.1:c.12847C>G	XP_016884681.1:p.Leu4283Val
XM_017029193.1:c.12829C>G	XP_016884682.1:p.Leu4277Val
XM_017029194.1:c.12805C>G	XP_016884683.1:p.Leu4269Val
XM_017029195.1:c.12802C>G	XP_016884684.1:p.Leu4268Val
XM_017029196.1:c.12799C>G	XP_016884685.1:p.Leu4267Val
XM_017029197.1:c.12751C>G	XP_016884686.1:p.Leu4251Val
XM_017029198.2:c.12739C>G	XP_016884687.1:p.Leu4247Val
XM_017029199.1:c.12739C>G	XP_016884688.1:p.Leu4247Val
XM_017029200.1:c.12739C>G	XP_016884689.1:p.Leu4247Val
XM_017029201.1:c.12739C>G	XP_016884690.1:p.Leu4247Val
XM_017029202.1:c.12739C>G	XP_016884691.1:p.Leu4247Val
XM_017029203.1:c.12739C>G	XP_016884692.1:p.Leu4247Val
XM_017029204.1:c.12601C>G	XP_016884693.1:p.Leu4201Val
XM_017029206.1:c.12448C>G	XP_016884695.1:p.Leu4150Val
XM_024452322.1:c.12718C>G	XP_024308090.1:p.Leu4240Val
NM_031407.7:c.12469C>G MANE Select	NP_113584.3:p.Leu4157Val