Canonical Allele Identifier: CA413146086

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561517G>C (hg19) ; chrX:g.53534556G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534556G>C , CM000685.2:g.53534556G>C	GRCh38
NC_000023.10:g.53561517G>C , CM000685.1:g.53561517G>C	GRCh37
NC_000023.9:g.53578242G>C	NCBI36
NG_016261.2:g.157178C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12575C>G	ENSP00000515693.1:p.Ser4192Cys
ENST00000262854.11:c.12791C>G MANE Select	ENSP00000262854.6:p.Ser4264Cys
ENST00000262854.10:c.12791C>G	ENSP00000262854.6:p.Ser4264Cys
ENST00000342160.7:c.12791C>G	ENSP00000340648.3:p.Ser4264Cys
ENST00000426907.5:c.3258C>G
ENST00000488459.1:n.104C>G
ENST00000612484.4:c.12764C>G	ENSP00000479451.1:p.Ser4255Cys
NM_031407.6:c.12791C>G	NP_113584.3:p.Ser4264Cys
XM_005261965.2:c.12791C>G	XP_005262022.1:p.Ser4264Cys
XM_011530746.1:c.13040C>G	XP_011529048.1:p.Ser4347Cys
XM_011530747.1:c.13040C>G	XP_011529049.1:p.Ser4347Cys
XM_011530748.1:c.13040C>G	XP_011529050.1:p.Ser4347Cys
XM_011530749.1:c.13040C>G	XP_011529051.1:p.Ser4347Cys
XM_011530750.1:c.13040C>G	XP_011529052.1:p.Ser4347Cys
XM_011530751.1:c.13040C>G	XP_011529053.1:p.Ser4347Cys
XM_011530752.1:c.13037C>G	XP_011529054.1:p.Ser4346Cys
XM_011530753.1:c.12995C>G	XP_011529055.1:p.Ser4332Cys
XM_011530754.1:c.12992C>G	XP_011529056.1:p.Ser4331Cys
XM_011530755.1:c.12989C>G	XP_011529057.1:p.Ser4330Cys
XM_011530756.1:c.12941C>G	XP_011529058.1:p.Ser4314Cys
XM_011530757.1:c.12638C>G	XP_011529059.1:p.Ser4213Cys
XM_005261965.4:c.12791C>G	XP_005262022.1:p.Ser4264Cys
XM_011530751.2:c.13040C>G	XP_011529053.1:p.Ser4347Cys
XM_017029191.1:c.13172C>G	XP_016884680.1:p.Ser4391Cys
XM_017029192.1:c.13169C>G	XP_016884681.1:p.Ser4390Cys
XM_017029193.1:c.13151C>G	XP_016884682.1:p.Ser4384Cys
XM_017029194.1:c.13127C>G	XP_016884683.1:p.Ser4376Cys
XM_017029195.1:c.13124C>G	XP_016884684.1:p.Ser4375Cys
XM_017029196.1:c.13121C>G	XP_016884685.1:p.Ser4374Cys
XM_017029197.1:c.13073C>G	XP_016884686.1:p.Ser4358Cys
XM_017029198.2:c.13061C>G	XP_016884687.1:p.Ser4354Cys
XM_017029199.1:c.13061C>G	XP_016884688.1:p.Ser4354Cys
XM_017029200.1:c.13061C>G	XP_016884689.1:p.Ser4354Cys
XM_017029201.1:c.13061C>G	XP_016884690.1:p.Ser4354Cys
XM_017029202.1:c.13061C>G	XP_016884691.1:p.Ser4354Cys
XM_017029203.1:c.13061C>G	XP_016884692.1:p.Ser4354Cys
XM_017029204.1:c.12923C>G	XP_016884693.1:p.Ser4308Cys
XM_017029206.1:c.12770C>G	XP_016884695.1:p.Ser4257Cys
XM_024452322.1:c.13040C>G	XP_024308090.1:p.Ser4347Cys
NM_031407.7:c.12791C>G MANE Select	NP_113584.3:p.Ser4264Cys