Canonical Allele Identifier: CA413146995

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561631A>T (hg19) ; chrX:g.53534670A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534670A>T , CM000685.2:g.53534670A>T	GRCh38
NC_000023.10:g.53561631A>T , CM000685.1:g.53561631A>T	GRCh37
NC_000023.9:g.53578356A>T	NCBI36
NG_016261.2:g.157064T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12461T>A	ENSP00000515693.1:p.Phe4154Tyr
ENST00000262854.11:c.12677T>A MANE Select	ENSP00000262854.6:p.Phe4226Tyr
ENST00000262854.10:c.12677T>A	ENSP00000262854.6:p.Phe4226Tyr
ENST00000342160.7:c.12677T>A	ENSP00000340648.3:p.Phe4226Tyr
ENST00000426907.5:c.3144T>A
ENST00000612484.4:c.12650T>A	ENSP00000479451.1:p.Phe4217Tyr
NM_031407.6:c.12677T>A	NP_113584.3:p.Phe4226Tyr
XM_005261965.2:c.12677T>A	XP_005262022.1:p.Phe4226Tyr
XM_011530746.1:c.12926T>A	XP_011529048.1:p.Phe4309Tyr
XM_011530747.1:c.12926T>A	XP_011529049.1:p.Phe4309Tyr
XM_011530748.1:c.12926T>A	XP_011529050.1:p.Phe4309Tyr
XM_011530749.1:c.12926T>A	XP_011529051.1:p.Phe4309Tyr
XM_011530750.1:c.12926T>A	XP_011529052.1:p.Phe4309Tyr
XM_011530751.1:c.12926T>A	XP_011529053.1:p.Phe4309Tyr
XM_011530752.1:c.12923T>A	XP_011529054.1:p.Phe4308Tyr
XM_011530753.1:c.12881T>A	XP_011529055.1:p.Phe4294Tyr
XM_011530754.1:c.12878T>A	XP_011529056.1:p.Phe4293Tyr
XM_011530755.1:c.12875T>A	XP_011529057.1:p.Phe4292Tyr
XM_011530756.1:c.12827T>A	XP_011529058.1:p.Phe4276Tyr
XM_011530757.1:c.12524T>A	XP_011529059.1:p.Phe4175Tyr
XM_005261965.4:c.12677T>A	XP_005262022.1:p.Phe4226Tyr
XM_011530751.2:c.12926T>A	XP_011529053.1:p.Phe4309Tyr
XM_017029191.1:c.13058T>A	XP_016884680.1:p.Phe4353Tyr
XM_017029192.1:c.13055T>A	XP_016884681.1:p.Phe4352Tyr
XM_017029193.1:c.13037T>A	XP_016884682.1:p.Phe4346Tyr
XM_017029194.1:c.13013T>A	XP_016884683.1:p.Phe4338Tyr
XM_017029195.1:c.13010T>A	XP_016884684.1:p.Phe4337Tyr
XM_017029196.1:c.13007T>A	XP_016884685.1:p.Phe4336Tyr
XM_017029197.1:c.12959T>A	XP_016884686.1:p.Phe4320Tyr
XM_017029198.2:c.12947T>A	XP_016884687.1:p.Phe4316Tyr
XM_017029199.1:c.12947T>A	XP_016884688.1:p.Phe4316Tyr
XM_017029200.1:c.12947T>A	XP_016884689.1:p.Phe4316Tyr
XM_017029201.1:c.12947T>A	XP_016884690.1:p.Phe4316Tyr
XM_017029202.1:c.12947T>A	XP_016884691.1:p.Phe4316Tyr
XM_017029203.1:c.12947T>A	XP_016884692.1:p.Phe4316Tyr
XM_017029204.1:c.12809T>A	XP_016884693.1:p.Phe4270Tyr
XM_017029206.1:c.12656T>A	XP_016884695.1:p.Phe4219Tyr
XM_024452322.1:c.12926T>A	XP_024308090.1:p.Phe4309Tyr
NM_031407.7:c.12677T>A MANE Select	NP_113584.3:p.Phe4226Tyr