Canonical Allele Identifier: CA413145881

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561499T>G (hg19) ; chrX:g.53534538T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534538T>G , CM000685.2:g.53534538T>G	GRCh38
NC_000023.10:g.53561499T>G , CM000685.1:g.53561499T>G	GRCh37
NC_000023.9:g.53578224T>G	NCBI36
NG_016261.2:g.157196A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12593A>C	ENSP00000515693.1:p.Lys4198Thr
ENST00000262854.11:c.12809A>C MANE Select	ENSP00000262854.6:p.Lys4270Thr
ENST00000262854.10:c.12809A>C	ENSP00000262854.6:p.Lys4270Thr
ENST00000342160.7:c.12809A>C	ENSP00000340648.3:p.Lys4270Thr
ENST00000426907.5:c.3276A>C
ENST00000488459.1:n.122A>C
ENST00000612484.4:c.12782A>C	ENSP00000479451.1:p.Lys4261Thr
NM_031407.6:c.12809A>C	NP_113584.3:p.Lys4270Thr
XM_005261965.2:c.12809A>C	XP_005262022.1:p.Lys4270Thr
XM_011530746.1:c.13058A>C	XP_011529048.1:p.Lys4353Thr
XM_011530747.1:c.13058A>C	XP_011529049.1:p.Lys4353Thr
XM_011530748.1:c.13058A>C	XP_011529050.1:p.Lys4353Thr
XM_011530749.1:c.13058A>C	XP_011529051.1:p.Lys4353Thr
XM_011530750.1:c.13058A>C	XP_011529052.1:p.Lys4353Thr
XM_011530751.1:c.13058A>C	XP_011529053.1:p.Lys4353Thr
XM_011530752.1:c.13055A>C	XP_011529054.1:p.Lys4352Thr
XM_011530753.1:c.13013A>C	XP_011529055.1:p.Lys4338Thr
XM_011530754.1:c.13010A>C	XP_011529056.1:p.Lys4337Thr
XM_011530755.1:c.13007A>C	XP_011529057.1:p.Lys4336Thr
XM_011530756.1:c.12959A>C	XP_011529058.1:p.Lys4320Thr
XM_011530757.1:c.12656A>C	XP_011529059.1:p.Lys4219Thr
XM_005261965.4:c.12809A>C	XP_005262022.1:p.Lys4270Thr
XM_011530751.2:c.13058A>C	XP_011529053.1:p.Lys4353Thr
XM_017029191.1:c.13190A>C	XP_016884680.1:p.Lys4397Thr
XM_017029192.1:c.13187A>C	XP_016884681.1:p.Lys4396Thr
XM_017029193.1:c.13169A>C	XP_016884682.1:p.Lys4390Thr
XM_017029194.1:c.13145A>C	XP_016884683.1:p.Lys4382Thr
XM_017029195.1:c.13142A>C	XP_016884684.1:p.Lys4381Thr
XM_017029196.1:c.13139A>C	XP_016884685.1:p.Lys4380Thr
XM_017029197.1:c.13091A>C	XP_016884686.1:p.Lys4364Thr
XM_017029198.2:c.13079A>C	XP_016884687.1:p.Lys4360Thr
XM_017029199.1:c.13079A>C	XP_016884688.1:p.Lys4360Thr
XM_017029200.1:c.13079A>C	XP_016884689.1:p.Lys4360Thr
XM_017029201.1:c.13079A>C	XP_016884690.1:p.Lys4360Thr
XM_017029202.1:c.13079A>C	XP_016884691.1:p.Lys4360Thr
XM_017029203.1:c.13079A>C	XP_016884692.1:p.Lys4360Thr
XM_017029204.1:c.12941A>C	XP_016884693.1:p.Lys4314Thr
XM_017029206.1:c.12788A>C	XP_016884695.1:p.Lys4263Thr
XM_024452322.1:c.13058A>C	XP_024308090.1:p.Lys4353Thr
NM_031407.7:c.12809A>C MANE Select	NP_113584.3:p.Lys4270Thr