Canonical Allele Identifier: CA413154850

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53564542A>G (hg19) ; chrX:g.53537581A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537581A>G , CM000685.2:g.53537581A>G	GRCh38
NC_000023.10:g.53564542A>G , CM000685.1:g.53564542A>G	GRCh37
NC_000023.9:g.53581267A>G	NCBI36
NG_016261.2:g.154153T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11896T>C	ENSP00000515693.1:p.Ser3966Pro
ENST00000262854.11:c.12112T>C MANE Select	ENSP00000262854.6:p.Ser4038Pro
ENST00000262854.10:c.12112T>C	ENSP00000262854.6:p.Ser4038Pro
ENST00000342160.7:c.12112T>C	ENSP00000340648.3:p.Ser4038Pro
ENST00000426907.5:c.2579T>C
ENST00000480438.1:n.247T>C
ENST00000612484.4:c.12085T>C	ENSP00000479451.1:p.Ser4029Pro
NM_031407.6:c.12112T>C	NP_113584.3:p.Ser4038Pro
XM_005261965.2:c.12112T>C	XP_005262022.1:p.Ser4038Pro
XM_011530746.1:c.12361T>C	XP_011529048.1:p.Ser4121Pro
XM_011530747.1:c.12361T>C	XP_011529049.1:p.Ser4121Pro
XM_011530748.1:c.12361T>C	XP_011529050.1:p.Ser4121Pro
XM_011530749.1:c.12361T>C	XP_011529051.1:p.Ser4121Pro
XM_011530750.1:c.12361T>C	XP_011529052.1:p.Ser4121Pro
XM_011530751.1:c.12361T>C	XP_011529053.1:p.Ser4121Pro
XM_011530752.1:c.12358T>C	XP_011529054.1:p.Ser4120Pro
XM_011530753.1:c.12316T>C	XP_011529055.1:p.Ser4106Pro
XM_011530754.1:c.12313T>C	XP_011529056.1:p.Ser4105Pro
XM_011530755.1:c.12310T>C	XP_011529057.1:p.Ser4104Pro
XM_011530756.1:c.12262T>C	XP_011529058.1:p.Ser4088Pro
XM_011530757.1:c.11959T>C	XP_011529059.1:p.Ser3987Pro
XM_005261965.4:c.12112T>C	XP_005262022.1:p.Ser4038Pro
XM_011530751.2:c.12361T>C	XP_011529053.1:p.Ser4121Pro
XM_017029191.1:c.12493T>C	XP_016884680.1:p.Ser4165Pro
XM_017029192.1:c.12490T>C	XP_016884681.1:p.Ser4164Pro
XM_017029193.1:c.12472T>C	XP_016884682.1:p.Ser4158Pro
XM_017029194.1:c.12448T>C	XP_016884683.1:p.Ser4150Pro
XM_017029195.1:c.12445T>C	XP_016884684.1:p.Ser4149Pro
XM_017029196.1:c.12442T>C	XP_016884685.1:p.Ser4148Pro
XM_017029197.1:c.12394T>C	XP_016884686.1:p.Ser4132Pro
XM_017029198.2:c.12382T>C	XP_016884687.1:p.Ser4128Pro
XM_017029199.1:c.12382T>C	XP_016884688.1:p.Ser4128Pro
XM_017029200.1:c.12382T>C	XP_016884689.1:p.Ser4128Pro
XM_017029201.1:c.12382T>C	XP_016884690.1:p.Ser4128Pro
XM_017029202.1:c.12382T>C	XP_016884691.1:p.Ser4128Pro
XM_017029203.1:c.12382T>C	XP_016884692.1:p.Ser4128Pro
XM_017029204.1:c.12244T>C	XP_016884693.1:p.Ser4082Pro
XM_017029206.1:c.12091T>C	XP_016884695.1:p.Ser4031Pro
XM_024452322.1:c.12361T>C	XP_024308090.1:p.Ser4121Pro
NM_031407.7:c.12112T>C MANE Select	NP_113584.3:p.Ser4038Pro