Canonical Allele Identifier: CA413146775

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561600C>G (hg19) ; chrX:g.53534639C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534639C>G , CM000685.2:g.53534639C>G	GRCh38
NC_000023.10:g.53561600C>G , CM000685.1:g.53561600C>G	GRCh37
NC_000023.9:g.53578325C>G	NCBI36
NG_016261.2:g.157095G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12492G>C	ENSP00000515693.1:p.Lys4164Asn
ENST00000262854.11:c.12708G>C MANE Select	ENSP00000262854.6:p.Lys4236Asn
ENST00000262854.10:c.12708G>C	ENSP00000262854.6:p.Lys4236Asn
ENST00000342160.7:c.12708G>C	ENSP00000340648.3:p.Lys4236Asn
ENST00000426907.5:c.3175G>C
ENST00000488459.1:n.21G>C
ENST00000612484.4:c.12681G>C	ENSP00000479451.1:p.Lys4227Asn
NM_031407.6:c.12708G>C	NP_113584.3:p.Lys4236Asn
XM_005261965.2:c.12708G>C	XP_005262022.1:p.Lys4236Asn
XM_011530746.1:c.12957G>C	XP_011529048.1:p.Lys4319Asn
XM_011530747.1:c.12957G>C	XP_011529049.1:p.Lys4319Asn
XM_011530748.1:c.12957G>C	XP_011529050.1:p.Lys4319Asn
XM_011530749.1:c.12957G>C	XP_011529051.1:p.Lys4319Asn
XM_011530750.1:c.12957G>C	XP_011529052.1:p.Lys4319Asn
XM_011530751.1:c.12957G>C	XP_011529053.1:p.Lys4319Asn
XM_011530752.1:c.12954G>C	XP_011529054.1:p.Lys4318Asn
XM_011530753.1:c.12912G>C	XP_011529055.1:p.Lys4304Asn
XM_011530754.1:c.12909G>C	XP_011529056.1:p.Lys4303Asn
XM_011530755.1:c.12906G>C	XP_011529057.1:p.Lys4302Asn
XM_011530756.1:c.12858G>C	XP_011529058.1:p.Lys4286Asn
XM_011530757.1:c.12555G>C	XP_011529059.1:p.Lys4185Asn
XM_005261965.4:c.12708G>C	XP_005262022.1:p.Lys4236Asn
XM_011530751.2:c.12957G>C	XP_011529053.1:p.Lys4319Asn
XM_017029191.1:c.13089G>C	XP_016884680.1:p.Lys4363Asn
XM_017029192.1:c.13086G>C	XP_016884681.1:p.Lys4362Asn
XM_017029193.1:c.13068G>C	XP_016884682.1:p.Lys4356Asn
XM_017029194.1:c.13044G>C	XP_016884683.1:p.Lys4348Asn
XM_017029195.1:c.13041G>C	XP_016884684.1:p.Lys4347Asn
XM_017029196.1:c.13038G>C	XP_016884685.1:p.Lys4346Asn
XM_017029197.1:c.12990G>C	XP_016884686.1:p.Lys4330Asn
XM_017029198.2:c.12978G>C	XP_016884687.1:p.Lys4326Asn
XM_017029199.1:c.12978G>C	XP_016884688.1:p.Lys4326Asn
XM_017029200.1:c.12978G>C	XP_016884689.1:p.Lys4326Asn
XM_017029201.1:c.12978G>C	XP_016884690.1:p.Lys4326Asn
XM_017029202.1:c.12978G>C	XP_016884691.1:p.Lys4326Asn
XM_017029203.1:c.12978G>C	XP_016884692.1:p.Lys4326Asn
XM_017029204.1:c.12840G>C	XP_016884693.1:p.Lys4280Asn
XM_017029206.1:c.12687G>C	XP_016884695.1:p.Lys4229Asn
XM_024452322.1:c.12957G>C	XP_024308090.1:p.Lys4319Asn
NM_031407.7:c.12708G>C MANE Select	NP_113584.3:p.Lys4236Asn