Canonical Allele Identifier: CA413155333

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53564575A>G (hg19) ; chrX:g.53537614A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537614A>G , CM000685.2:g.53537614A>G	GRCh38
NC_000023.10:g.53564575A>G , CM000685.1:g.53564575A>G	GRCh37
NC_000023.9:g.53581300A>G	NCBI36
NG_016261.2:g.154120T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11863T>C	ENSP00000515693.1:p.Phe3955Leu
ENST00000262854.11:c.12079T>C MANE Select	ENSP00000262854.6:p.Phe4027Leu
ENST00000262854.10:c.12079T>C	ENSP00000262854.6:p.Phe4027Leu
ENST00000342160.7:c.12079T>C	ENSP00000340648.3:p.Phe4027Leu
ENST00000426907.5:c.2546T>C
ENST00000480438.1:n.214T>C
ENST00000612484.4:c.12052T>C	ENSP00000479451.1:p.Phe4018Leu
NM_031407.6:c.12079T>C	NP_113584.3:p.Phe4027Leu
XM_005261965.2:c.12079T>C	XP_005262022.1:p.Phe4027Leu
XM_011530746.1:c.12328T>C	XP_011529048.1:p.Phe4110Leu
XM_011530747.1:c.12328T>C	XP_011529049.1:p.Phe4110Leu
XM_011530748.1:c.12328T>C	XP_011529050.1:p.Phe4110Leu
XM_011530749.1:c.12328T>C	XP_011529051.1:p.Phe4110Leu
XM_011530750.1:c.12328T>C	XP_011529052.1:p.Phe4110Leu
XM_011530751.1:c.12328T>C	XP_011529053.1:p.Phe4110Leu
XM_011530752.1:c.12325T>C	XP_011529054.1:p.Phe4109Leu
XM_011530753.1:c.12283T>C	XP_011529055.1:p.Phe4095Leu
XM_011530754.1:c.12280T>C	XP_011529056.1:p.Phe4094Leu
XM_011530755.1:c.12277T>C	XP_011529057.1:p.Phe4093Leu
XM_011530756.1:c.12229T>C	XP_011529058.1:p.Phe4077Leu
XM_011530757.1:c.11926T>C	XP_011529059.1:p.Phe3976Leu
XM_005261965.4:c.12079T>C	XP_005262022.1:p.Phe4027Leu
XM_011530751.2:c.12328T>C	XP_011529053.1:p.Phe4110Leu
XM_017029191.1:c.12460T>C	XP_016884680.1:p.Phe4154Leu
XM_017029192.1:c.12457T>C	XP_016884681.1:p.Phe4153Leu
XM_017029193.1:c.12439T>C	XP_016884682.1:p.Phe4147Leu
XM_017029194.1:c.12415T>C	XP_016884683.1:p.Phe4139Leu
XM_017029195.1:c.12412T>C	XP_016884684.1:p.Phe4138Leu
XM_017029196.1:c.12409T>C	XP_016884685.1:p.Phe4137Leu
XM_017029197.1:c.12361T>C	XP_016884686.1:p.Phe4121Leu
XM_017029198.2:c.12349T>C	XP_016884687.1:p.Phe4117Leu
XM_017029199.1:c.12349T>C	XP_016884688.1:p.Phe4117Leu
XM_017029200.1:c.12349T>C	XP_016884689.1:p.Phe4117Leu
XM_017029201.1:c.12349T>C	XP_016884690.1:p.Phe4117Leu
XM_017029202.1:c.12349T>C	XP_016884691.1:p.Phe4117Leu
XM_017029203.1:c.12349T>C	XP_016884692.1:p.Phe4117Leu
XM_017029204.1:c.12211T>C	XP_016884693.1:p.Phe4071Leu
XM_017029206.1:c.12058T>C	XP_016884695.1:p.Phe4020Leu
XM_024452322.1:c.12328T>C	XP_024308090.1:p.Phe4110Leu
NM_031407.7:c.12079T>C MANE Select	NP_113584.3:p.Phe4027Leu