Canonical Allele Identifier: CA16608949
Gene: HUWE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 383741
ClinVar RCV Id: RCV000441110
dbSNP Id: rs1057521722

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53534039C>G , CM000685.2:g.53534039C>G GRCh38
NC_000023.10:g.53561000C>G , CM000685.1:g.53561000C>G GRCh37
NC_000023.9:g.53577725C>G NCBI36
NG_016261.2:g.157695G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000704099.1:c.12774G>C ENSP00000515693.1:p.Arg4258Ser
ENST00000262854.11:c.12990G>C MANE Select ENSP00000262854.6:p.Arg4330Ser
ENST00000262854.10:c.12990G>C ENSP00000262854.6:p.Arg4330Ser
ENST00000342160.7:c.12990G>C ENSP00000340648.3:p.Arg4330Ser
ENST00000426907.5:c.3457G>C
ENST00000488459.1:n.303G>C
ENST00000612484.4:c.12963G>C ENSP00000479451.1:p.Arg4321Ser
NM_031407.6:c.12990G>C NP_113584.3:p.Arg4330Ser
XM_005261965.2:c.12990G>C XP_005262022.1:p.Arg4330Ser
XM_011530746.1:c.13239G>C XP_011529048.1:p.Arg4413Ser
XM_011530747.1:c.13239G>C XP_011529049.1:p.Arg4413Ser
XM_011530748.1:c.13239G>C XP_011529050.1:p.Arg4413Ser
XM_011530749.1:c.13239G>C XP_011529051.1:p.Arg4413Ser
XM_011530750.1:c.13239G>C XP_011529052.1:p.Arg4413Ser
XM_011530751.1:c.13239G>C XP_011529053.1:p.Arg4413Ser
XM_011530752.1:c.13236G>C XP_011529054.1:p.Arg4412Ser
XM_011530753.1:c.13194G>C XP_011529055.1:p.Arg4398Ser
XM_011530754.1:c.13191G>C XP_011529056.1:p.Arg4397Ser
XM_011530755.1:c.13188G>C XP_011529057.1:p.Arg4396Ser
XM_011530756.1:c.13140G>C XP_011529058.1:p.Arg4380Ser
XM_011530757.1:c.12837G>C XP_011529059.1:p.Arg4279Ser
XM_005261965.4:c.12990G>C XP_005262022.1:p.Arg4330Ser
XM_011530751.2:c.13239G>C XP_011529053.1:p.Arg4413Ser
XM_017029191.1:c.13371G>C XP_016884680.1:p.Arg4457Ser
XM_017029192.1:c.13368G>C XP_016884681.1:p.Arg4456Ser
XM_017029193.1:c.13350G>C XP_016884682.1:p.Arg4450Ser
XM_017029194.1:c.13326G>C XP_016884683.1:p.Arg4442Ser
XM_017029195.1:c.13323G>C XP_016884684.1:p.Arg4441Ser
XM_017029196.1:c.13320G>C XP_016884685.1:p.Arg4440Ser
XM_017029197.1:c.13272G>C XP_016884686.1:p.Arg4424Ser
XM_017029198.2:c.13260G>C XP_016884687.1:p.Arg4420Ser
XM_017029199.1:c.13260G>C XP_016884688.1:p.Arg4420Ser
XM_017029200.1:c.13260G>C XP_016884689.1:p.Arg4420Ser
XM_017029201.1:c.13260G>C XP_016884690.1:p.Arg4420Ser
XM_017029202.1:c.13260G>C XP_016884691.1:p.Arg4420Ser
XM_017029203.1:c.13260G>C XP_016884692.1:p.Arg4420Ser
XM_017029204.1:c.13122G>C XP_016884693.1:p.Arg4374Ser
XM_017029206.1:c.12969G>C XP_016884695.1:p.Arg4323Ser
XM_024452322.1:c.13239G>C XP_024308090.1:p.Arg4413Ser
NM_031407.7:c.12990G>C MANE Select NP_113584.3:p.Arg4330Ser