Canonical Allele Identifier: CA413155836

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53564622C>G (hg19) ; chrX:g.53537661C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537661C>G , CM000685.2:g.53537661C>G	GRCh38
NC_000023.10:g.53564622C>G , CM000685.1:g.53564622C>G	GRCh37
NC_000023.9:g.53581347C>G	NCBI36
NG_016261.2:g.154073G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11816G>C	ENSP00000515693.1:p.Gly3939Ala
ENST00000262854.11:c.12032G>C MANE Select	ENSP00000262854.6:p.Gly4011Ala
ENST00000262854.10:c.12032G>C	ENSP00000262854.6:p.Gly4011Ala
ENST00000342160.7:c.12032G>C	ENSP00000340648.3:p.Gly4011Ala
ENST00000426907.5:c.2499G>C
ENST00000480438.1:n.167G>C
ENST00000612484.4:c.12005G>C	ENSP00000479451.1:p.Gly4002Ala
NM_031407.6:c.12032G>C	NP_113584.3:p.Gly4011Ala
XM_005261965.2:c.12032G>C	XP_005262022.1:p.Gly4011Ala
XM_011530746.1:c.12281G>C	XP_011529048.1:p.Gly4094Ala
XM_011530747.1:c.12281G>C	XP_011529049.1:p.Gly4094Ala
XM_011530748.1:c.12281G>C	XP_011529050.1:p.Gly4094Ala
XM_011530749.1:c.12281G>C	XP_011529051.1:p.Gly4094Ala
XM_011530750.1:c.12281G>C	XP_011529052.1:p.Gly4094Ala
XM_011530751.1:c.12281G>C	XP_011529053.1:p.Gly4094Ala
XM_011530752.1:c.12278G>C	XP_011529054.1:p.Gly4093Ala
XM_011530753.1:c.12236G>C	XP_011529055.1:p.Gly4079Ala
XM_011530754.1:c.12233G>C	XP_011529056.1:p.Gly4078Ala
XM_011530755.1:c.12230G>C	XP_011529057.1:p.Gly4077Ala
XM_011530756.1:c.12182G>C	XP_011529058.1:p.Gly4061Ala
XM_011530757.1:c.11879G>C	XP_011529059.1:p.Gly3960Ala
XM_005261965.4:c.12032G>C	XP_005262022.1:p.Gly4011Ala
XM_011530751.2:c.12281G>C	XP_011529053.1:p.Gly4094Ala
XM_017029191.1:c.12413G>C	XP_016884680.1:p.Gly4138Ala
XM_017029192.1:c.12410G>C	XP_016884681.1:p.Gly4137Ala
XM_017029193.1:c.12392G>C	XP_016884682.1:p.Gly4131Ala
XM_017029194.1:c.12368G>C	XP_016884683.1:p.Gly4123Ala
XM_017029195.1:c.12365G>C	XP_016884684.1:p.Gly4122Ala
XM_017029196.1:c.12362G>C	XP_016884685.1:p.Gly4121Ala
XM_017029197.1:c.12314G>C	XP_016884686.1:p.Gly4105Ala
XM_017029198.2:c.12302G>C	XP_016884687.1:p.Gly4101Ala
XM_017029199.1:c.12302G>C	XP_016884688.1:p.Gly4101Ala
XM_017029200.1:c.12302G>C	XP_016884689.1:p.Gly4101Ala
XM_017029201.1:c.12302G>C	XP_016884690.1:p.Gly4101Ala
XM_017029202.1:c.12302G>C	XP_016884691.1:p.Gly4101Ala
XM_017029203.1:c.12302G>C	XP_016884692.1:p.Gly4101Ala
XM_017029204.1:c.12164G>C	XP_016884693.1:p.Gly4055Ala
XM_017029206.1:c.12011G>C	XP_016884695.1:p.Gly4004Ala
XM_024452322.1:c.12281G>C	XP_024308090.1:p.Gly4094Ala
NM_031407.7:c.12032G>C MANE Select	NP_113584.3:p.Gly4011Ala