Canonical Allele Identifier: CA413144769

Gene: HUWE1

Linked Data

• ClinVar Variation Id: 451359
• ClinVar RCV Id: RCV000519152
• dbSNP Id: rs1556909363
• MyVariant Identifiers: chrX:g.53561095A>G (hg19) ; chrX:g.53534134A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534134A>G , CM000685.2:g.53534134A>G	GRCh38
NC_000023.10:g.53561095A>G , CM000685.1:g.53561095A>G	GRCh37
NC_000023.9:g.53577820A>G	NCBI36
NG_016261.2:g.157600T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12679T>C	ENSP00000515693.1:p.Phe4227Leu
ENST00000262854.11:c.12895T>C MANE Select	ENSP00000262854.6:p.Phe4299Leu
ENST00000262854.10:c.12895T>C	ENSP00000262854.6:p.Phe4299Leu
ENST00000342160.7:c.12895T>C	ENSP00000340648.3:p.Phe4299Leu
ENST00000426907.5:c.3362T>C
ENST00000488459.1:n.208T>C
ENST00000612484.4:c.12868T>C	ENSP00000479451.1:p.Phe4290Leu
NM_031407.6:c.12895T>C	NP_113584.3:p.Phe4299Leu
XM_005261965.2:c.12895T>C	XP_005262022.1:p.Phe4299Leu
XM_011530746.1:c.13144T>C	XP_011529048.1:p.Phe4382Leu
XM_011530747.1:c.13144T>C	XP_011529049.1:p.Phe4382Leu
XM_011530748.1:c.13144T>C	XP_011529050.1:p.Phe4382Leu
XM_011530749.1:c.13144T>C	XP_011529051.1:p.Phe4382Leu
XM_011530750.1:c.13144T>C	XP_011529052.1:p.Phe4382Leu
XM_011530751.1:c.13144T>C	XP_011529053.1:p.Phe4382Leu
XM_011530752.1:c.13141T>C	XP_011529054.1:p.Phe4381Leu
XM_011530753.1:c.13099T>C	XP_011529055.1:p.Phe4367Leu
XM_011530754.1:c.13096T>C	XP_011529056.1:p.Phe4366Leu
XM_011530755.1:c.13093T>C	XP_011529057.1:p.Phe4365Leu
XM_011530756.1:c.13045T>C	XP_011529058.1:p.Phe4349Leu
XM_011530757.1:c.12742T>C	XP_011529059.1:p.Phe4248Leu
XM_005261965.4:c.12895T>C	XP_005262022.1:p.Phe4299Leu
XM_011530751.2:c.13144T>C	XP_011529053.1:p.Phe4382Leu
XM_017029191.1:c.13276T>C	XP_016884680.1:p.Phe4426Leu
XM_017029192.1:c.13273T>C	XP_016884681.1:p.Phe4425Leu
XM_017029193.1:c.13255T>C	XP_016884682.1:p.Phe4419Leu
XM_017029194.1:c.13231T>C	XP_016884683.1:p.Phe4411Leu
XM_017029195.1:c.13228T>C	XP_016884684.1:p.Phe4410Leu
XM_017029196.1:c.13225T>C	XP_016884685.1:p.Phe4409Leu
XM_017029197.1:c.13177T>C	XP_016884686.1:p.Phe4393Leu
XM_017029198.2:c.13165T>C	XP_016884687.1:p.Phe4389Leu
XM_017029199.1:c.13165T>C	XP_016884688.1:p.Phe4389Leu
XM_017029200.1:c.13165T>C	XP_016884689.1:p.Phe4389Leu
XM_017029201.1:c.13165T>C	XP_016884690.1:p.Phe4389Leu
XM_017029202.1:c.13165T>C	XP_016884691.1:p.Phe4389Leu
XM_017029203.1:c.13165T>C	XP_016884692.1:p.Phe4389Leu
XM_017029204.1:c.13027T>C	XP_016884693.1:p.Phe4343Leu
XM_017029206.1:c.12874T>C	XP_016884695.1:p.Phe4292Leu
XM_024452322.1:c.13144T>C	XP_024308090.1:p.Phe4382Leu
NM_031407.7:c.12895T>C MANE Select	NP_113584.3:p.Phe4299Leu