Canonical Allele Identifier: CA413155556

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53564596G>C (hg19) ; chrX:g.53537635G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537635G>C , CM000685.2:g.53537635G>C	GRCh38
NC_000023.10:g.53564596G>C , CM000685.1:g.53564596G>C	GRCh37
NC_000023.9:g.53581321G>C	NCBI36
NG_016261.2:g.154099C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11842C>G	ENSP00000515693.1:p.His3948Asp
ENST00000262854.11:c.12058C>G MANE Select	ENSP00000262854.6:p.His4020Asp
ENST00000262854.10:c.12058C>G	ENSP00000262854.6:p.His4020Asp
ENST00000342160.7:c.12058C>G	ENSP00000340648.3:p.His4020Asp
ENST00000426907.5:c.2525C>G
ENST00000480438.1:n.193C>G
ENST00000612484.4:c.12031C>G	ENSP00000479451.1:p.His4011Asp
NM_031407.6:c.12058C>G	NP_113584.3:p.His4020Asp
XM_005261965.2:c.12058C>G	XP_005262022.1:p.His4020Asp
XM_011530746.1:c.12307C>G	XP_011529048.1:p.His4103Asp
XM_011530747.1:c.12307C>G	XP_011529049.1:p.His4103Asp
XM_011530748.1:c.12307C>G	XP_011529050.1:p.His4103Asp
XM_011530749.1:c.12307C>G	XP_011529051.1:p.His4103Asp
XM_011530750.1:c.12307C>G	XP_011529052.1:p.His4103Asp
XM_011530751.1:c.12307C>G	XP_011529053.1:p.His4103Asp
XM_011530752.1:c.12304C>G	XP_011529054.1:p.His4102Asp
XM_011530753.1:c.12262C>G	XP_011529055.1:p.His4088Asp
XM_011530754.1:c.12259C>G	XP_011529056.1:p.His4087Asp
XM_011530755.1:c.12256C>G	XP_011529057.1:p.His4086Asp
XM_011530756.1:c.12208C>G	XP_011529058.1:p.His4070Asp
XM_011530757.1:c.11905C>G	XP_011529059.1:p.His3969Asp
XM_005261965.4:c.12058C>G	XP_005262022.1:p.His4020Asp
XM_011530751.2:c.12307C>G	XP_011529053.1:p.His4103Asp
XM_017029191.1:c.12439C>G	XP_016884680.1:p.His4147Asp
XM_017029192.1:c.12436C>G	XP_016884681.1:p.His4146Asp
XM_017029193.1:c.12418C>G	XP_016884682.1:p.His4140Asp
XM_017029194.1:c.12394C>G	XP_016884683.1:p.His4132Asp
XM_017029195.1:c.12391C>G	XP_016884684.1:p.His4131Asp
XM_017029196.1:c.12388C>G	XP_016884685.1:p.His4130Asp
XM_017029197.1:c.12340C>G	XP_016884686.1:p.His4114Asp
XM_017029198.2:c.12328C>G	XP_016884687.1:p.His4110Asp
XM_017029199.1:c.12328C>G	XP_016884688.1:p.His4110Asp
XM_017029200.1:c.12328C>G	XP_016884689.1:p.His4110Asp
XM_017029201.1:c.12328C>G	XP_016884690.1:p.His4110Asp
XM_017029202.1:c.12328C>G	XP_016884691.1:p.His4110Asp
XM_017029203.1:c.12328C>G	XP_016884692.1:p.His4110Asp
XM_017029204.1:c.12190C>G	XP_016884693.1:p.His4064Asp
XM_017029206.1:c.12037C>G	XP_016884695.1:p.His4013Asp
XM_024452322.1:c.12307C>G	XP_024308090.1:p.His4103Asp
NM_031407.7:c.12058C>G MANE Select	NP_113584.3:p.His4020Asp