Canonical Allele Identifier: CA413155769

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53564612T>G (hg19) ; chrX:g.53537651T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537651T>G , CM000685.2:g.53537651T>G	GRCh38
NC_000023.10:g.53564612T>G , CM000685.1:g.53564612T>G	GRCh37
NC_000023.9:g.53581337T>G	NCBI36
NG_016261.2:g.154083A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11826A>C	ENSP00000515693.1:p.Lys3942Asn
ENST00000262854.11:c.12042A>C MANE Select	ENSP00000262854.6:p.Lys4014Asn
ENST00000262854.10:c.12042A>C	ENSP00000262854.6:p.Lys4014Asn
ENST00000342160.7:c.12042A>C	ENSP00000340648.3:p.Lys4014Asn
ENST00000426907.5:c.2509A>C
ENST00000480438.1:n.177A>C
ENST00000612484.4:c.12015A>C	ENSP00000479451.1:p.Lys4005Asn
NM_031407.6:c.12042A>C	NP_113584.3:p.Lys4014Asn
XM_005261965.2:c.12042A>C	XP_005262022.1:p.Lys4014Asn
XM_011530746.1:c.12291A>C	XP_011529048.1:p.Lys4097Asn
XM_011530747.1:c.12291A>C	XP_011529049.1:p.Lys4097Asn
XM_011530748.1:c.12291A>C	XP_011529050.1:p.Lys4097Asn
XM_011530749.1:c.12291A>C	XP_011529051.1:p.Lys4097Asn
XM_011530750.1:c.12291A>C	XP_011529052.1:p.Lys4097Asn
XM_011530751.1:c.12291A>C	XP_011529053.1:p.Lys4097Asn
XM_011530752.1:c.12288A>C	XP_011529054.1:p.Lys4096Asn
XM_011530753.1:c.12246A>C	XP_011529055.1:p.Lys4082Asn
XM_011530754.1:c.12243A>C	XP_011529056.1:p.Lys4081Asn
XM_011530755.1:c.12240A>C	XP_011529057.1:p.Lys4080Asn
XM_011530756.1:c.12192A>C	XP_011529058.1:p.Lys4064Asn
XM_011530757.1:c.11889A>C	XP_011529059.1:p.Lys3963Asn
XM_005261965.4:c.12042A>C	XP_005262022.1:p.Lys4014Asn
XM_011530751.2:c.12291A>C	XP_011529053.1:p.Lys4097Asn
XM_017029191.1:c.12423A>C	XP_016884680.1:p.Lys4141Asn
XM_017029192.1:c.12420A>C	XP_016884681.1:p.Lys4140Asn
XM_017029193.1:c.12402A>C	XP_016884682.1:p.Lys4134Asn
XM_017029194.1:c.12378A>C	XP_016884683.1:p.Lys4126Asn
XM_017029195.1:c.12375A>C	XP_016884684.1:p.Lys4125Asn
XM_017029196.1:c.12372A>C	XP_016884685.1:p.Lys4124Asn
XM_017029197.1:c.12324A>C	XP_016884686.1:p.Lys4108Asn
XM_017029198.2:c.12312A>C	XP_016884687.1:p.Lys4104Asn
XM_017029199.1:c.12312A>C	XP_016884688.1:p.Lys4104Asn
XM_017029200.1:c.12312A>C	XP_016884689.1:p.Lys4104Asn
XM_017029201.1:c.12312A>C	XP_016884690.1:p.Lys4104Asn
XM_017029202.1:c.12312A>C	XP_016884691.1:p.Lys4104Asn
XM_017029203.1:c.12312A>C	XP_016884692.1:p.Lys4104Asn
XM_017029204.1:c.12174A>C	XP_016884693.1:p.Lys4058Asn
XM_017029206.1:c.12021A>C	XP_016884695.1:p.Lys4007Asn
XM_024452322.1:c.12291A>C	XP_024308090.1:p.Lys4097Asn
NM_031407.7:c.12042A>C MANE Select	NP_113584.3:p.Lys4014Asn