Canonical Allele Identifier: CA516418800
Gene: HUWE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.53561051G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53534090G>C , CM000685.2:g.53534090G>C GRCh38
NC_000023.10:g.53561051G>C , CM000685.1:g.53561051G>C GRCh37
NC_000023.9:g.53577776G>C NCBI36
NG_016261.2:g.157644C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000704099.1:c.12723C>G ENSP00000515693.1:p.Ala4241=
ENST00000262854.11:c.12939C>G MANE Select ENSP00000262854.6:p.Ala4313=
ENST00000262854.10:c.12939C>G ENSP00000262854.6:p.Ala4313=
ENST00000342160.7:c.12939C>G ENSP00000340648.3:p.Ala4313=
ENST00000426907.5:c.3406C>G
ENST00000488459.1:n.252C>G
ENST00000612484.4:c.12912C>G ENSP00000479451.1:p.Ala4304=
NM_031407.6:c.12939C>G NP_113584.3:p.Ala4313=
XM_005261965.2:c.12939C>G XP_005262022.1:p.Ala4313=
XM_011530746.1:c.13188C>G XP_011529048.1:p.Ala4396=
XM_011530747.1:c.13188C>G XP_011529049.1:p.Ala4396=
XM_011530748.1:c.13188C>G XP_011529050.1:p.Ala4396=
XM_011530749.1:c.13188C>G XP_011529051.1:p.Ala4396=
XM_011530750.1:c.13188C>G XP_011529052.1:p.Ala4396=
XM_011530751.1:c.13188C>G XP_011529053.1:p.Ala4396=
XM_011530752.1:c.13185C>G XP_011529054.1:p.Ala4395=
XM_011530753.1:c.13143C>G XP_011529055.1:p.Ala4381=
XM_011530754.1:c.13140C>G XP_011529056.1:p.Ala4380=
XM_011530755.1:c.13137C>G XP_011529057.1:p.Ala4379=
XM_011530756.1:c.13089C>G XP_011529058.1:p.Ala4363=
XM_011530757.1:c.12786C>G XP_011529059.1:p.Ala4262=
XM_005261965.4:c.12939C>G XP_005262022.1:p.Ala4313=
XM_011530751.2:c.13188C>G XP_011529053.1:p.Ala4396=
XM_017029191.1:c.13320C>G XP_016884680.1:p.Ala4440=
XM_017029192.1:c.13317C>G XP_016884681.1:p.Ala4439=
XM_017029193.1:c.13299C>G XP_016884682.1:p.Ala4433=
XM_017029194.1:c.13275C>G XP_016884683.1:p.Ala4425=
XM_017029195.1:c.13272C>G XP_016884684.1:p.Ala4424=
XM_017029196.1:c.13269C>G XP_016884685.1:p.Ala4423=
XM_017029197.1:c.13221C>G XP_016884686.1:p.Ala4407=
XM_017029198.2:c.13209C>G XP_016884687.1:p.Ala4403=
XM_017029199.1:c.13209C>G XP_016884688.1:p.Ala4403=
XM_017029200.1:c.13209C>G XP_016884689.1:p.Ala4403=
XM_017029201.1:c.13209C>G XP_016884690.1:p.Ala4403=
XM_017029202.1:c.13209C>G XP_016884691.1:p.Ala4403=
XM_017029203.1:c.13209C>G XP_016884692.1:p.Ala4403=
XM_017029204.1:c.13071C>G XP_016884693.1:p.Ala4357=
XM_017029206.1:c.12918C>G XP_016884695.1:p.Ala4306=
XM_024452322.1:c.13188C>G XP_024308090.1:p.Ala4396=
NM_031407.7:c.12939C>G MANE Select NP_113584.3:p.Ala4313=