Canonical Allele Identifier: CA413145454

Gene: HUWE1

Linked Data

• gnomAD v4: X-53534186-G-T
• MyVariant Identifiers: chrX:g.53561147G>T (hg19) ; chrX:g.53534186G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534186G>T , CM000685.2:g.53534186G>T	GRCh38
NC_000023.10:g.53561147G>T , CM000685.1:g.53561147G>T	GRCh37
NC_000023.9:g.53577872G>T	NCBI36
NG_016261.2:g.157548C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12627C>A	ENSP00000515693.1:p.Phe4209Leu
ENST00000262854.11:c.12843C>A MANE Select	ENSP00000262854.6:p.Phe4281Leu
ENST00000262854.10:c.12843C>A	ENSP00000262854.6:p.Phe4281Leu
ENST00000342160.7:c.12843C>A	ENSP00000340648.3:p.Phe4281Leu
ENST00000426907.5:c.3310C>A
ENST00000488459.1:n.156C>A
ENST00000612484.4:c.12816C>A	ENSP00000479451.1:p.Phe4272Leu
NM_031407.6:c.12843C>A	NP_113584.3:p.Phe4281Leu
XM_005261965.2:c.12843C>A	XP_005262022.1:p.Phe4281Leu
XM_011530746.1:c.13092C>A	XP_011529048.1:p.Phe4364Leu
XM_011530747.1:c.13092C>A	XP_011529049.1:p.Phe4364Leu
XM_011530748.1:c.13092C>A	XP_011529050.1:p.Phe4364Leu
XM_011530749.1:c.13092C>A	XP_011529051.1:p.Phe4364Leu
XM_011530750.1:c.13092C>A	XP_011529052.1:p.Phe4364Leu
XM_011530751.1:c.13092C>A	XP_011529053.1:p.Phe4364Leu
XM_011530752.1:c.13089C>A	XP_011529054.1:p.Phe4363Leu
XM_011530753.1:c.13047C>A	XP_011529055.1:p.Phe4349Leu
XM_011530754.1:c.13044C>A	XP_011529056.1:p.Phe4348Leu
XM_011530755.1:c.13041C>A	XP_011529057.1:p.Phe4347Leu
XM_011530756.1:c.12993C>A	XP_011529058.1:p.Phe4331Leu
XM_011530757.1:c.12690C>A	XP_011529059.1:p.Phe4230Leu
XM_005261965.4:c.12843C>A	XP_005262022.1:p.Phe4281Leu
XM_011530751.2:c.13092C>A	XP_011529053.1:p.Phe4364Leu
XM_017029191.1:c.13224C>A	XP_016884680.1:p.Phe4408Leu
XM_017029192.1:c.13221C>A	XP_016884681.1:p.Phe4407Leu
XM_017029193.1:c.13203C>A	XP_016884682.1:p.Phe4401Leu
XM_017029194.1:c.13179C>A	XP_016884683.1:p.Phe4393Leu
XM_017029195.1:c.13176C>A	XP_016884684.1:p.Phe4392Leu
XM_017029196.1:c.13173C>A	XP_016884685.1:p.Phe4391Leu
XM_017029197.1:c.13125C>A	XP_016884686.1:p.Phe4375Leu
XM_017029198.2:c.13113C>A	XP_016884687.1:p.Phe4371Leu
XM_017029199.1:c.13113C>A	XP_016884688.1:p.Phe4371Leu
XM_017029200.1:c.13113C>A	XP_016884689.1:p.Phe4371Leu
XM_017029201.1:c.13113C>A	XP_016884690.1:p.Phe4371Leu
XM_017029202.1:c.13113C>A	XP_016884691.1:p.Phe4371Leu
XM_017029203.1:c.13113C>A	XP_016884692.1:p.Phe4371Leu
XM_017029204.1:c.12975C>A	XP_016884693.1:p.Phe4325Leu
XM_017029206.1:c.12822C>A	XP_016884695.1:p.Phe4274Leu
XM_024452322.1:c.13092C>A	XP_024308090.1:p.Phe4364Leu
NM_031407.7:c.12843C>A MANE Select	NP_113584.3:p.Phe4281Leu