Canonical Allele Identifier: CA516418204

Gene: HUWE1

Linked Data

• MyVariant Identifiers: chrX:g.53560976A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534015A>C , CM000685.2:g.53534015A>C	GRCh38
NC_000023.10:g.53560976A>C , CM000685.1:g.53560976A>C	GRCh37
NC_000023.9:g.53577701A>C	NCBI36
NG_016261.2:g.157719T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12798T>G	ENSP00000515693.1:p.Ala4266=
ENST00000262854.11:c.13014T>G MANE Select	ENSP00000262854.6:p.Ala4338=
ENST00000262854.10:c.13014T>G	ENSP00000262854.6:p.Ala4338=
ENST00000342160.7:c.13014T>G	ENSP00000340648.3:p.Ala4338=
ENST00000426907.5:c.3481T>G
ENST00000488459.1:n.327T>G
ENST00000612484.4:c.12987T>G	ENSP00000479451.1:p.Ala4329=
NM_031407.6:c.13014T>G	NP_113584.3:p.Ala4338=
XM_005261965.2:c.13014T>G	XP_005262022.1:p.Ala4338=
XM_011530746.1:c.13263T>G	XP_011529048.1:p.Ala4421=
XM_011530747.1:c.13263T>G	XP_011529049.1:p.Ala4421=
XM_011530748.1:c.13263T>G	XP_011529050.1:p.Ala4421=
XM_011530749.1:c.13263T>G	XP_011529051.1:p.Ala4421=
XM_011530750.1:c.13263T>G	XP_011529052.1:p.Ala4421=
XM_011530751.1:c.13263T>G	XP_011529053.1:p.Ala4421=
XM_011530752.1:c.13260T>G	XP_011529054.1:p.Ala4420=
XM_011530753.1:c.13218T>G	XP_011529055.1:p.Ala4406=
XM_011530754.1:c.13215T>G	XP_011529056.1:p.Ala4405=
XM_011530755.1:c.13212T>G	XP_011529057.1:p.Ala4404=
XM_011530756.1:c.13164T>G	XP_011529058.1:p.Ala4388=
XM_011530757.1:c.12861T>G	XP_011529059.1:p.Ala4287=
XM_005261965.4:c.13014T>G	XP_005262022.1:p.Ala4338=
XM_011530751.2:c.13263T>G	XP_011529053.1:p.Ala4421=
XM_017029191.1:c.13395T>G	XP_016884680.1:p.Ala4465=
XM_017029192.1:c.13392T>G	XP_016884681.1:p.Ala4464=
XM_017029193.1:c.13374T>G	XP_016884682.1:p.Ala4458=
XM_017029194.1:c.13350T>G	XP_016884683.1:p.Ala4450=
XM_017029195.1:c.13347T>G	XP_016884684.1:p.Ala4449=
XM_017029196.1:c.13344T>G	XP_016884685.1:p.Ala4448=
XM_017029197.1:c.13296T>G	XP_016884686.1:p.Ala4432=
XM_017029198.2:c.13284T>G	XP_016884687.1:p.Ala4428=
XM_017029199.1:c.13284T>G	XP_016884688.1:p.Ala4428=
XM_017029200.1:c.13284T>G	XP_016884689.1:p.Ala4428=
XM_017029201.1:c.13284T>G	XP_016884690.1:p.Ala4428=
XM_017029202.1:c.13284T>G	XP_016884691.1:p.Ala4428=
XM_017029203.1:c.13284T>G	XP_016884692.1:p.Ala4428=
XM_017029204.1:c.13146T>G	XP_016884693.1:p.Ala4382=
XM_017029206.1:c.12993T>G	XP_016884695.1:p.Ala4331=
XM_024452322.1:c.13263T>G	XP_024308090.1:p.Ala4421=
NM_031407.7:c.13014T>G MANE Select	NP_113584.3:p.Ala4338=