Canonical Allele Identifier: CA16043268
Gene: HUWE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372628
ClinVar RCV Id: RCV000414013
dbSNP Id: rs1057517893

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53534667A>G , CM000685.2:g.53534667A>G GRCh38
NC_000023.10:g.53561628A>G , CM000685.1:g.53561628A>G GRCh37
NC_000023.9:g.53578353A>G NCBI36
NG_016261.2:g.157067T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000704099.1:c.12464T>C ENSP00000515693.1:p.Leu4155Ser
ENST00000262854.11:c.12680T>C MANE Select ENSP00000262854.6:p.Leu4227Ser
ENST00000262854.10:c.12680T>C ENSP00000262854.6:p.Leu4227Ser
ENST00000342160.7:c.12680T>C ENSP00000340648.3:p.Leu4227Ser
ENST00000426907.5:c.3147T>C
ENST00000612484.4:c.12653T>C ENSP00000479451.1:p.Leu4218Ser
NM_031407.6:c.12680T>C NP_113584.3:p.Leu4227Ser
XM_005261965.2:c.12680T>C XP_005262022.1:p.Leu4227Ser
XM_011530746.1:c.12929T>C XP_011529048.1:p.Leu4310Ser
XM_011530747.1:c.12929T>C XP_011529049.1:p.Leu4310Ser
XM_011530748.1:c.12929T>C XP_011529050.1:p.Leu4310Ser
XM_011530749.1:c.12929T>C XP_011529051.1:p.Leu4310Ser
XM_011530750.1:c.12929T>C XP_011529052.1:p.Leu4310Ser
XM_011530751.1:c.12929T>C XP_011529053.1:p.Leu4310Ser
XM_011530752.1:c.12926T>C XP_011529054.1:p.Leu4309Ser
XM_011530753.1:c.12884T>C XP_011529055.1:p.Leu4295Ser
XM_011530754.1:c.12881T>C XP_011529056.1:p.Leu4294Ser
XM_011530755.1:c.12878T>C XP_011529057.1:p.Leu4293Ser
XM_011530756.1:c.12830T>C XP_011529058.1:p.Leu4277Ser
XM_011530757.1:c.12527T>C XP_011529059.1:p.Leu4176Ser
XM_005261965.4:c.12680T>C XP_005262022.1:p.Leu4227Ser
XM_011530751.2:c.12929T>C XP_011529053.1:p.Leu4310Ser
XM_017029191.1:c.13061T>C XP_016884680.1:p.Leu4354Ser
XM_017029192.1:c.13058T>C XP_016884681.1:p.Leu4353Ser
XM_017029193.1:c.13040T>C XP_016884682.1:p.Leu4347Ser
XM_017029194.1:c.13016T>C XP_016884683.1:p.Leu4339Ser
XM_017029195.1:c.13013T>C XP_016884684.1:p.Leu4338Ser
XM_017029196.1:c.13010T>C XP_016884685.1:p.Leu4337Ser
XM_017029197.1:c.12962T>C XP_016884686.1:p.Leu4321Ser
XM_017029198.2:c.12950T>C XP_016884687.1:p.Leu4317Ser
XM_017029199.1:c.12950T>C XP_016884688.1:p.Leu4317Ser
XM_017029200.1:c.12950T>C XP_016884689.1:p.Leu4317Ser
XM_017029201.1:c.12950T>C XP_016884690.1:p.Leu4317Ser
XM_017029202.1:c.12950T>C XP_016884691.1:p.Leu4317Ser
XM_017029203.1:c.12950T>C XP_016884692.1:p.Leu4317Ser
XM_017029204.1:c.12812T>C XP_016884693.1:p.Leu4271Ser
XM_017029206.1:c.12659T>C XP_016884695.1:p.Leu4220Ser
XM_024452322.1:c.12929T>C XP_024308090.1:p.Leu4310Ser
NM_031407.7:c.12680T>C MANE Select NP_113584.3:p.Leu4227Ser