Canonical Allele Identifier: CA121142
Gene: HUWE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10677
ClinVar RCV Id: RCV000011423 RCV000480036
dbSNP Id: rs121918526
COSMIC: COSM6454841 COSM6454842
MyVariant Identifiers: chrX:g.53578381C>T (hg19) chrX:g.53551420C>T (hg38)
PubMed: PMID:18252223
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53551420C>T , CM000685.2:g.53551420C>T GRCh38
NC_000023.10:g.53578381C>T , CM000685.1:g.53578381C>T GRCh37
NC_000023.9:g.53595106C>T NCBI36
NG_016261.2:g.140314G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000704099.1:c.8939G>A ENSP00000515693.1:p.Arg2980His
ENST00000262854.11:c.8942G>A MANE Select ENSP00000262854.6:p.Arg2981His
ENST00000262854.10:c.8942G>A ENSP00000262854.6:p.Arg2981His
ENST00000342160.7:c.8942G>A ENSP00000340648.3:p.Arg2981His
ENST00000612484.4:c.8915G>A ENSP00000479451.1:p.Arg2972His
NM_031407.6:c.8942G>A NP_113584.3:p.Arg2981His
XM_005261965.2:c.8942G>A XP_005262022.1:p.Arg2981His
XM_011530746.1:c.9191G>A XP_011529048.1:p.Arg3064His
XM_011530747.1:c.9191G>A XP_011529049.1:p.Arg3064His
XM_011530748.1:c.9191G>A XP_011529050.1:p.Arg3064His
XM_011530749.1:c.9191G>A XP_011529051.1:p.Arg3064His
XM_011530750.1:c.9191G>A XP_011529052.1:p.Arg3064His
XM_011530751.1:c.9191G>A XP_011529053.1:p.Arg3064His
XM_011530752.1:c.9188G>A XP_011529054.1:p.Arg3063His
XM_011530753.1:c.9191G>A XP_011529055.1:p.Arg3064His
XM_011530754.1:c.9191G>A XP_011529056.1:p.Arg3064His
XM_011530755.1:c.9188G>A XP_011529057.1:p.Arg3063His
XM_011530756.1:c.9092G>A XP_011529058.1:p.Arg3031His
XM_011530757.1:c.8789G>A XP_011529059.1:p.Arg2930His
XM_011530758.1:c.9191G>A XP_011529060.1:p.Arg3064His
XR_938360.1:n.9626G>A
XM_005261965.4:c.8942G>A XP_005262022.1:p.Arg2981His
XM_011530751.2:c.9191G>A XP_011529053.1:p.Arg3064His
XM_017029191.1:c.9323G>A XP_016884680.1:p.Arg3108His
XM_017029192.1:c.9320G>A XP_016884681.1:p.Arg3107His
XM_017029193.1:c.9302G>A XP_016884682.1:p.Arg3101His
XM_017029194.1:c.9323G>A XP_016884683.1:p.Arg3108His
XM_017029195.1:c.9323G>A XP_016884684.1:p.Arg3108His
XM_017029196.1:c.9320G>A XP_016884685.1:p.Arg3107His
XM_017029197.1:c.9224G>A XP_016884686.1:p.Arg3075His
XM_017029198.2:c.9212G>A XP_016884687.1:p.Arg3071His
XM_017029199.1:c.9212G>A XP_016884688.1:p.Arg3071His
XM_017029200.1:c.9212G>A XP_016884689.1:p.Arg3071His
XM_017029201.1:c.9212G>A XP_016884690.1:p.Arg3071His
XM_017029202.1:c.9212G>A XP_016884691.1:p.Arg3071His
XM_017029203.1:c.9212G>A XP_016884692.1:p.Arg3071His
XM_017029204.1:c.9074G>A XP_016884693.1:p.Arg3025His
XM_017029206.1:c.8921G>A XP_016884695.1:p.Arg2974His
XM_024452322.1:c.9191G>A XP_024308090.1:p.Arg3064His
NM_031407.7:c.8942G>A MANE Select NP_113584.3:p.Arg2981His
Search 100 bp 5'
Search 100 bp 3'