Canonical Allele Identifier: CA413156229

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53564653A>C (hg19) ; chrX:g.53537692A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537692A>C , CM000685.2:g.53537692A>C	GRCh38
NC_000023.10:g.53564653A>C , CM000685.1:g.53564653A>C	GRCh37
NC_000023.9:g.53581378A>C	NCBI36
NG_016261.2:g.154042T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11785T>G	ENSP00000515693.1:p.Phe3929Val
ENST00000262854.11:c.12001T>G MANE Select	ENSP00000262854.6:p.Phe4001Val
ENST00000262854.10:c.12001T>G	ENSP00000262854.6:p.Phe4001Val
ENST00000342160.7:c.12001T>G	ENSP00000340648.3:p.Phe4001Val
ENST00000426907.5:c.2468T>G
ENST00000480438.1:n.136T>G
ENST00000612484.4:c.11974T>G	ENSP00000479451.1:p.Phe3992Val
NM_031407.6:c.12001T>G	NP_113584.3:p.Phe4001Val
XM_005261965.2:c.12001T>G	XP_005262022.1:p.Phe4001Val
XM_011530746.1:c.12250T>G	XP_011529048.1:p.Phe4084Val
XM_011530747.1:c.12250T>G	XP_011529049.1:p.Phe4084Val
XM_011530748.1:c.12250T>G	XP_011529050.1:p.Phe4084Val
XM_011530749.1:c.12250T>G	XP_011529051.1:p.Phe4084Val
XM_011530750.1:c.12250T>G	XP_011529052.1:p.Phe4084Val
XM_011530751.1:c.12250T>G	XP_011529053.1:p.Phe4084Val
XM_011530752.1:c.12247T>G	XP_011529054.1:p.Phe4083Val
XM_011530753.1:c.12205T>G	XP_011529055.1:p.Phe4069Val
XM_011530754.1:c.12202T>G	XP_011529056.1:p.Phe4068Val
XM_011530755.1:c.12199T>G	XP_011529057.1:p.Phe4067Val
XM_011530756.1:c.12151T>G	XP_011529058.1:p.Phe4051Val
XM_011530757.1:c.11848T>G	XP_011529059.1:p.Phe3950Val
XM_005261965.4:c.12001T>G	XP_005262022.1:p.Phe4001Val
XM_011530751.2:c.12250T>G	XP_011529053.1:p.Phe4084Val
XM_017029191.1:c.12382T>G	XP_016884680.1:p.Phe4128Val
XM_017029192.1:c.12379T>G	XP_016884681.1:p.Phe4127Val
XM_017029193.1:c.12361T>G	XP_016884682.1:p.Phe4121Val
XM_017029194.1:c.12337T>G	XP_016884683.1:p.Phe4113Val
XM_017029195.1:c.12334T>G	XP_016884684.1:p.Phe4112Val
XM_017029196.1:c.12331T>G	XP_016884685.1:p.Phe4111Val
XM_017029197.1:c.12283T>G	XP_016884686.1:p.Phe4095Val
XM_017029198.2:c.12271T>G	XP_016884687.1:p.Phe4091Val
XM_017029199.1:c.12271T>G	XP_016884688.1:p.Phe4091Val
XM_017029200.1:c.12271T>G	XP_016884689.1:p.Phe4091Val
XM_017029201.1:c.12271T>G	XP_016884690.1:p.Phe4091Val
XM_017029202.1:c.12271T>G	XP_016884691.1:p.Phe4091Val
XM_017029203.1:c.12271T>G	XP_016884692.1:p.Phe4091Val
XM_017029204.1:c.12133T>G	XP_016884693.1:p.Phe4045Val
XM_017029206.1:c.11980T>G	XP_016884695.1:p.Phe3994Val
XM_024452322.1:c.12250T>G	XP_024308090.1:p.Phe4084Val
NM_031407.7:c.12001T>G MANE Select	NP_113584.3:p.Phe4001Val