Canonical Allele Identifier: CA516419937

Gene: HUWE1

Linked Data

• dbSNP Id: rs2060893726
• MyVariant Identifiers: chrX:g.53561123A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534162A>G , CM000685.2:g.53534162A>G	GRCh38
NC_000023.10:g.53561123A>G , CM000685.1:g.53561123A>G	GRCh37
NC_000023.9:g.53577848A>G	NCBI36
NG_016261.2:g.157572T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12651T>C	ENSP00000515693.1:p.Asp4217=
ENST00000262854.11:c.12867T>C MANE Select	ENSP00000262854.6:p.Asp4289=
ENST00000262854.10:c.12867T>C	ENSP00000262854.6:p.Asp4289=
ENST00000342160.7:c.12867T>C	ENSP00000340648.3:p.Asp4289=
ENST00000426907.5:c.3334T>C
ENST00000488459.1:n.180T>C
ENST00000612484.4:c.12840T>C	ENSP00000479451.1:p.Asp4280=
NM_031407.6:c.12867T>C	NP_113584.3:p.Asp4289=
XM_005261965.2:c.12867T>C	XP_005262022.1:p.Asp4289=
XM_011530746.1:c.13116T>C	XP_011529048.1:p.Asp4372=
XM_011530747.1:c.13116T>C	XP_011529049.1:p.Asp4372=
XM_011530748.1:c.13116T>C	XP_011529050.1:p.Asp4372=
XM_011530749.1:c.13116T>C	XP_011529051.1:p.Asp4372=
XM_011530750.1:c.13116T>C	XP_011529052.1:p.Asp4372=
XM_011530751.1:c.13116T>C	XP_011529053.1:p.Asp4372=
XM_011530752.1:c.13113T>C	XP_011529054.1:p.Asp4371=
XM_011530753.1:c.13071T>C	XP_011529055.1:p.Asp4357=
XM_011530754.1:c.13068T>C	XP_011529056.1:p.Asp4356=
XM_011530755.1:c.13065T>C	XP_011529057.1:p.Asp4355=
XM_011530756.1:c.13017T>C	XP_011529058.1:p.Asp4339=
XM_011530757.1:c.12714T>C	XP_011529059.1:p.Asp4238=
XM_005261965.4:c.12867T>C	XP_005262022.1:p.Asp4289=
XM_011530751.2:c.13116T>C	XP_011529053.1:p.Asp4372=
XM_017029191.1:c.13248T>C	XP_016884680.1:p.Asp4416=
XM_017029192.1:c.13245T>C	XP_016884681.1:p.Asp4415=
XM_017029193.1:c.13227T>C	XP_016884682.1:p.Asp4409=
XM_017029194.1:c.13203T>C	XP_016884683.1:p.Asp4401=
XM_017029195.1:c.13200T>C	XP_016884684.1:p.Asp4400=
XM_017029196.1:c.13197T>C	XP_016884685.1:p.Asp4399=
XM_017029197.1:c.13149T>C	XP_016884686.1:p.Asp4383=
XM_017029198.2:c.13137T>C	XP_016884687.1:p.Asp4379=
XM_017029199.1:c.13137T>C	XP_016884688.1:p.Asp4379=
XM_017029200.1:c.13137T>C	XP_016884689.1:p.Asp4379=
XM_017029201.1:c.13137T>C	XP_016884690.1:p.Asp4379=
XM_017029202.1:c.13137T>C	XP_016884691.1:p.Asp4379=
XM_017029203.1:c.13137T>C	XP_016884692.1:p.Asp4379=
XM_017029204.1:c.12999T>C	XP_016884693.1:p.Asp4333=
XM_017029206.1:c.12846T>C	XP_016884695.1:p.Asp4282=
XM_024452322.1:c.13116T>C	XP_024308090.1:p.Asp4372=
NM_031407.7:c.12867T>C MANE Select	NP_113584.3:p.Asp4289=