Canonical Allele Identifier: CA516421114

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53561633A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534672A>G , CM000685.2:g.53534672A>G	GRCh38
NC_000023.10:g.53561633A>G , CM000685.1:g.53561633A>G	GRCh37
NC_000023.9:g.53578358A>G	NCBI36
NG_016261.2:g.157062T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12459T>C	ENSP00000515693.1:p.Ala4153=
ENST00000262854.11:c.12675T>C MANE Select	ENSP00000262854.6:p.Ala4225=
ENST00000262854.10:c.12675T>C	ENSP00000262854.6:p.Ala4225=
ENST00000342160.7:c.12675T>C	ENSP00000340648.3:p.Ala4225=
ENST00000426907.5:c.3142T>C
ENST00000612484.4:c.12648T>C	ENSP00000479451.1:p.Ala4216=
NM_031407.6:c.12675T>C	NP_113584.3:p.Ala4225=
XM_005261965.2:c.12675T>C	XP_005262022.1:p.Ala4225=
XM_011530746.1:c.12924T>C	XP_011529048.1:p.Ala4308=
XM_011530747.1:c.12924T>C	XP_011529049.1:p.Ala4308=
XM_011530748.1:c.12924T>C	XP_011529050.1:p.Ala4308=
XM_011530749.1:c.12924T>C	XP_011529051.1:p.Ala4308=
XM_011530750.1:c.12924T>C	XP_011529052.1:p.Ala4308=
XM_011530751.1:c.12924T>C	XP_011529053.1:p.Ala4308=
XM_011530752.1:c.12921T>C	XP_011529054.1:p.Ala4307=
XM_011530753.1:c.12879T>C	XP_011529055.1:p.Ala4293=
XM_011530754.1:c.12876T>C	XP_011529056.1:p.Ala4292=
XM_011530755.1:c.12873T>C	XP_011529057.1:p.Ala4291=
XM_011530756.1:c.12825T>C	XP_011529058.1:p.Ala4275=
XM_011530757.1:c.12522T>C	XP_011529059.1:p.Ala4174=
XM_005261965.4:c.12675T>C	XP_005262022.1:p.Ala4225=
XM_011530751.2:c.12924T>C	XP_011529053.1:p.Ala4308=
XM_017029191.1:c.13056T>C	XP_016884680.1:p.Ala4352=
XM_017029192.1:c.13053T>C	XP_016884681.1:p.Ala4351=
XM_017029193.1:c.13035T>C	XP_016884682.1:p.Ala4345=
XM_017029194.1:c.13011T>C	XP_016884683.1:p.Ala4337=
XM_017029195.1:c.13008T>C	XP_016884684.1:p.Ala4336=
XM_017029196.1:c.13005T>C	XP_016884685.1:p.Ala4335=
XM_017029197.1:c.12957T>C	XP_016884686.1:p.Ala4319=
XM_017029198.2:c.12945T>C	XP_016884687.1:p.Ala4315=
XM_017029199.1:c.12945T>C	XP_016884688.1:p.Ala4315=
XM_017029200.1:c.12945T>C	XP_016884689.1:p.Ala4315=
XM_017029201.1:c.12945T>C	XP_016884690.1:p.Ala4315=
XM_017029202.1:c.12945T>C	XP_016884691.1:p.Ala4315=
XM_017029203.1:c.12945T>C	XP_016884692.1:p.Ala4315=
XM_017029204.1:c.12807T>C	XP_016884693.1:p.Ala4269=
XM_017029206.1:c.12654T>C	XP_016884695.1:p.Ala4218=
XM_024452322.1:c.12924T>C	XP_024308090.1:p.Ala4308=
NM_031407.7:c.12675T>C MANE Select	NP_113584.3:p.Ala4225=