Canonical Allele Identifier: CA413156213

Gene: HUWE1

Linked Data

• gnomAD v4: X-53537691-A-G
• MyVariant Identifiers: chrX:g.53564652A>G (hg19) ; chrX:g.53537691A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537691A>G , CM000685.2:g.53537691A>G	GRCh38
NC_000023.10:g.53564652A>G , CM000685.1:g.53564652A>G	GRCh37
NC_000023.9:g.53581377A>G	NCBI36
NG_016261.2:g.154043T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11786T>C	ENSP00000515693.1:p.Phe3929Ser
ENST00000262854.11:c.12002T>C MANE Select	ENSP00000262854.6:p.Phe4001Ser
ENST00000262854.10:c.12002T>C	ENSP00000262854.6:p.Phe4001Ser
ENST00000342160.7:c.12002T>C	ENSP00000340648.3:p.Phe4001Ser
ENST00000426907.5:c.2469T>C
ENST00000480438.1:n.137T>C
ENST00000612484.4:c.11975T>C	ENSP00000479451.1:p.Phe3992Ser
NM_031407.6:c.12002T>C	NP_113584.3:p.Phe4001Ser
XM_005261965.2:c.12002T>C	XP_005262022.1:p.Phe4001Ser
XM_011530746.1:c.12251T>C	XP_011529048.1:p.Phe4084Ser
XM_011530747.1:c.12251T>C	XP_011529049.1:p.Phe4084Ser
XM_011530748.1:c.12251T>C	XP_011529050.1:p.Phe4084Ser
XM_011530749.1:c.12251T>C	XP_011529051.1:p.Phe4084Ser
XM_011530750.1:c.12251T>C	XP_011529052.1:p.Phe4084Ser
XM_011530751.1:c.12251T>C	XP_011529053.1:p.Phe4084Ser
XM_011530752.1:c.12248T>C	XP_011529054.1:p.Phe4083Ser
XM_011530753.1:c.12206T>C	XP_011529055.1:p.Phe4069Ser
XM_011530754.1:c.12203T>C	XP_011529056.1:p.Phe4068Ser
XM_011530755.1:c.12200T>C	XP_011529057.1:p.Phe4067Ser
XM_011530756.1:c.12152T>C	XP_011529058.1:p.Phe4051Ser
XM_011530757.1:c.11849T>C	XP_011529059.1:p.Phe3950Ser
XM_005261965.4:c.12002T>C	XP_005262022.1:p.Phe4001Ser
XM_011530751.2:c.12251T>C	XP_011529053.1:p.Phe4084Ser
XM_017029191.1:c.12383T>C	XP_016884680.1:p.Phe4128Ser
XM_017029192.1:c.12380T>C	XP_016884681.1:p.Phe4127Ser
XM_017029193.1:c.12362T>C	XP_016884682.1:p.Phe4121Ser
XM_017029194.1:c.12338T>C	XP_016884683.1:p.Phe4113Ser
XM_017029195.1:c.12335T>C	XP_016884684.1:p.Phe4112Ser
XM_017029196.1:c.12332T>C	XP_016884685.1:p.Phe4111Ser
XM_017029197.1:c.12284T>C	XP_016884686.1:p.Phe4095Ser
XM_017029198.2:c.12272T>C	XP_016884687.1:p.Phe4091Ser
XM_017029199.1:c.12272T>C	XP_016884688.1:p.Phe4091Ser
XM_017029200.1:c.12272T>C	XP_016884689.1:p.Phe4091Ser
XM_017029201.1:c.12272T>C	XP_016884690.1:p.Phe4091Ser
XM_017029202.1:c.12272T>C	XP_016884691.1:p.Phe4091Ser
XM_017029203.1:c.12272T>C	XP_016884692.1:p.Phe4091Ser
XM_017029204.1:c.12134T>C	XP_016884693.1:p.Phe4045Ser
XM_017029206.1:c.11981T>C	XP_016884695.1:p.Phe3994Ser
XM_024452322.1:c.12251T>C	XP_024308090.1:p.Phe4084Ser
NM_031407.7:c.12002T>C MANE Select	NP_113584.3:p.Phe4001Ser