Canonical Allele Identifier: CA413145268

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561131A>C (hg19) ; chrX:g.53534170A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534170A>C , CM000685.2:g.53534170A>C	GRCh38
NC_000023.10:g.53561131A>C , CM000685.1:g.53561131A>C	GRCh37
NC_000023.9:g.53577856A>C	NCBI36
NG_016261.2:g.157564T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12643T>G	ENSP00000515693.1:p.Ser4215Ala
ENST00000262854.11:c.12859T>G MANE Select	ENSP00000262854.6:p.Ser4287Ala
ENST00000262854.10:c.12859T>G	ENSP00000262854.6:p.Ser4287Ala
ENST00000342160.7:c.12859T>G	ENSP00000340648.3:p.Ser4287Ala
ENST00000426907.5:c.3326T>G
ENST00000488459.1:n.172T>G
ENST00000612484.4:c.12832T>G	ENSP00000479451.1:p.Ser4278Ala
NM_031407.6:c.12859T>G	NP_113584.3:p.Ser4287Ala
XM_005261965.2:c.12859T>G	XP_005262022.1:p.Ser4287Ala
XM_011530746.1:c.13108T>G	XP_011529048.1:p.Ser4370Ala
XM_011530747.1:c.13108T>G	XP_011529049.1:p.Ser4370Ala
XM_011530748.1:c.13108T>G	XP_011529050.1:p.Ser4370Ala
XM_011530749.1:c.13108T>G	XP_011529051.1:p.Ser4370Ala
XM_011530750.1:c.13108T>G	XP_011529052.1:p.Ser4370Ala
XM_011530751.1:c.13108T>G	XP_011529053.1:p.Ser4370Ala
XM_011530752.1:c.13105T>G	XP_011529054.1:p.Ser4369Ala
XM_011530753.1:c.13063T>G	XP_011529055.1:p.Ser4355Ala
XM_011530754.1:c.13060T>G	XP_011529056.1:p.Ser4354Ala
XM_011530755.1:c.13057T>G	XP_011529057.1:p.Ser4353Ala
XM_011530756.1:c.13009T>G	XP_011529058.1:p.Ser4337Ala
XM_011530757.1:c.12706T>G	XP_011529059.1:p.Ser4236Ala
XM_005261965.4:c.12859T>G	XP_005262022.1:p.Ser4287Ala
XM_011530751.2:c.13108T>G	XP_011529053.1:p.Ser4370Ala
XM_017029191.1:c.13240T>G	XP_016884680.1:p.Ser4414Ala
XM_017029192.1:c.13237T>G	XP_016884681.1:p.Ser4413Ala
XM_017029193.1:c.13219T>G	XP_016884682.1:p.Ser4407Ala
XM_017029194.1:c.13195T>G	XP_016884683.1:p.Ser4399Ala
XM_017029195.1:c.13192T>G	XP_016884684.1:p.Ser4398Ala
XM_017029196.1:c.13189T>G	XP_016884685.1:p.Ser4397Ala
XM_017029197.1:c.13141T>G	XP_016884686.1:p.Ser4381Ala
XM_017029198.2:c.13129T>G	XP_016884687.1:p.Ser4377Ala
XM_017029199.1:c.13129T>G	XP_016884688.1:p.Ser4377Ala
XM_017029200.1:c.13129T>G	XP_016884689.1:p.Ser4377Ala
XM_017029201.1:c.13129T>G	XP_016884690.1:p.Ser4377Ala
XM_017029202.1:c.13129T>G	XP_016884691.1:p.Ser4377Ala
XM_017029203.1:c.13129T>G	XP_016884692.1:p.Ser4377Ala
XM_017029204.1:c.12991T>G	XP_016884693.1:p.Ser4331Ala
XM_017029206.1:c.12838T>G	XP_016884695.1:p.Ser4280Ala
XM_024452322.1:c.13108T>G	XP_024308090.1:p.Ser4370Ala
NM_031407.7:c.12859T>G MANE Select	NP_113584.3:p.Ser4287Ala