Canonical Allele Identifier: CA413145521

Gene: HUWE1

Linked Data

• dbSNP Id: rs1361976479
• gnomAD v3: X-53534192-C-G
• gnomAD v4: X-53534192-C-G
• MyVariant Identifiers: chrX:g.53561153C>G (hg19) ; chrX:g.53534192C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534192C>G , CM000685.2:g.53534192C>G	GRCh38
NC_000023.10:g.53561153C>G , CM000685.1:g.53561153C>G	GRCh37
NC_000023.9:g.53577878C>G	NCBI36
NG_016261.2:g.157542G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12621G>C	ENSP00000515693.1:p.Gln4207His
ENST00000262854.11:c.12837G>C MANE Select	ENSP00000262854.6:p.Gln4279His
ENST00000262854.10:c.12837G>C	ENSP00000262854.6:p.Gln4279His
ENST00000342160.7:c.12837G>C	ENSP00000340648.3:p.Gln4279His
ENST00000426907.5:c.3304G>C
ENST00000488459.1:n.150G>C
ENST00000612484.4:c.12810G>C	ENSP00000479451.1:p.Gln4270His
NM_031407.6:c.12837G>C	NP_113584.3:p.Gln4279His
XM_005261965.2:c.12837G>C	XP_005262022.1:p.Gln4279His
XM_011530746.1:c.13086G>C	XP_011529048.1:p.Gln4362His
XM_011530747.1:c.13086G>C	XP_011529049.1:p.Gln4362His
XM_011530748.1:c.13086G>C	XP_011529050.1:p.Gln4362His
XM_011530749.1:c.13086G>C	XP_011529051.1:p.Gln4362His
XM_011530750.1:c.13086G>C	XP_011529052.1:p.Gln4362His
XM_011530751.1:c.13086G>C	XP_011529053.1:p.Gln4362His
XM_011530752.1:c.13083G>C	XP_011529054.1:p.Gln4361His
XM_011530753.1:c.13041G>C	XP_011529055.1:p.Gln4347His
XM_011530754.1:c.13038G>C	XP_011529056.1:p.Gln4346His
XM_011530755.1:c.13035G>C	XP_011529057.1:p.Gln4345His
XM_011530756.1:c.12987G>C	XP_011529058.1:p.Gln4329His
XM_011530757.1:c.12684G>C	XP_011529059.1:p.Gln4228His
XM_005261965.4:c.12837G>C	XP_005262022.1:p.Gln4279His
XM_011530751.2:c.13086G>C	XP_011529053.1:p.Gln4362His
XM_017029191.1:c.13218G>C	XP_016884680.1:p.Gln4406His
XM_017029192.1:c.13215G>C	XP_016884681.1:p.Gln4405His
XM_017029193.1:c.13197G>C	XP_016884682.1:p.Gln4399His
XM_017029194.1:c.13173G>C	XP_016884683.1:p.Gln4391His
XM_017029195.1:c.13170G>C	XP_016884684.1:p.Gln4390His
XM_017029196.1:c.13167G>C	XP_016884685.1:p.Gln4389His
XM_017029197.1:c.13119G>C	XP_016884686.1:p.Gln4373His
XM_017029198.2:c.13107G>C	XP_016884687.1:p.Gln4369His
XM_017029199.1:c.13107G>C	XP_016884688.1:p.Gln4369His
XM_017029200.1:c.13107G>C	XP_016884689.1:p.Gln4369His
XM_017029201.1:c.13107G>C	XP_016884690.1:p.Gln4369His
XM_017029202.1:c.13107G>C	XP_016884691.1:p.Gln4369His
XM_017029203.1:c.13107G>C	XP_016884692.1:p.Gln4369His
XM_017029204.1:c.12969G>C	XP_016884693.1:p.Gln4323His
XM_017029206.1:c.12816G>C	XP_016884695.1:p.Gln4272His
XM_024452322.1:c.13086G>C	XP_024308090.1:p.Gln4362His
NM_031407.7:c.12837G>C MANE Select	NP_113584.3:p.Gln4279His