Canonical Allele Identifier: CA413155861

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53564626C>G (hg19) ; chrX:g.53537665C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537665C>G , CM000685.2:g.53537665C>G	GRCh38
NC_000023.10:g.53564626C>G , CM000685.1:g.53564626C>G	GRCh37
NC_000023.9:g.53581351C>G	NCBI36
NG_016261.2:g.154069G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11812G>C	ENSP00000515693.1:p.Glu3938Gln
ENST00000262854.11:c.12028G>C MANE Select	ENSP00000262854.6:p.Glu4010Gln
ENST00000262854.10:c.12028G>C	ENSP00000262854.6:p.Glu4010Gln
ENST00000342160.7:c.12028G>C	ENSP00000340648.3:p.Glu4010Gln
ENST00000426907.5:c.2495G>C
ENST00000480438.1:n.163G>C
ENST00000612484.4:c.12001G>C	ENSP00000479451.1:p.Glu4001Gln
NM_031407.6:c.12028G>C	NP_113584.3:p.Glu4010Gln
XM_005261965.2:c.12028G>C	XP_005262022.1:p.Glu4010Gln
XM_011530746.1:c.12277G>C	XP_011529048.1:p.Glu4093Gln
XM_011530747.1:c.12277G>C	XP_011529049.1:p.Glu4093Gln
XM_011530748.1:c.12277G>C	XP_011529050.1:p.Glu4093Gln
XM_011530749.1:c.12277G>C	XP_011529051.1:p.Glu4093Gln
XM_011530750.1:c.12277G>C	XP_011529052.1:p.Glu4093Gln
XM_011530751.1:c.12277G>C	XP_011529053.1:p.Glu4093Gln
XM_011530752.1:c.12274G>C	XP_011529054.1:p.Glu4092Gln
XM_011530753.1:c.12232G>C	XP_011529055.1:p.Glu4078Gln
XM_011530754.1:c.12229G>C	XP_011529056.1:p.Glu4077Gln
XM_011530755.1:c.12226G>C	XP_011529057.1:p.Glu4076Gln
XM_011530756.1:c.12178G>C	XP_011529058.1:p.Glu4060Gln
XM_011530757.1:c.11875G>C	XP_011529059.1:p.Glu3959Gln
XM_005261965.4:c.12028G>C	XP_005262022.1:p.Glu4010Gln
XM_011530751.2:c.12277G>C	XP_011529053.1:p.Glu4093Gln
XM_017029191.1:c.12409G>C	XP_016884680.1:p.Glu4137Gln
XM_017029192.1:c.12406G>C	XP_016884681.1:p.Glu4136Gln
XM_017029193.1:c.12388G>C	XP_016884682.1:p.Glu4130Gln
XM_017029194.1:c.12364G>C	XP_016884683.1:p.Glu4122Gln
XM_017029195.1:c.12361G>C	XP_016884684.1:p.Glu4121Gln
XM_017029196.1:c.12358G>C	XP_016884685.1:p.Glu4120Gln
XM_017029197.1:c.12310G>C	XP_016884686.1:p.Glu4104Gln
XM_017029198.2:c.12298G>C	XP_016884687.1:p.Glu4100Gln
XM_017029199.1:c.12298G>C	XP_016884688.1:p.Glu4100Gln
XM_017029200.1:c.12298G>C	XP_016884689.1:p.Glu4100Gln
XM_017029201.1:c.12298G>C	XP_016884690.1:p.Glu4100Gln
XM_017029202.1:c.12298G>C	XP_016884691.1:p.Glu4100Gln
XM_017029203.1:c.12298G>C	XP_016884692.1:p.Glu4100Gln
XM_017029204.1:c.12160G>C	XP_016884693.1:p.Glu4054Gln
XM_017029206.1:c.12007G>C	XP_016884695.1:p.Glu4003Gln
XM_024452322.1:c.12277G>C	XP_024308090.1:p.Glu4093Gln
NM_031407.7:c.12028G>C MANE Select	NP_113584.3:p.Glu4010Gln