Canonical Allele Identifier: CA413159025

Gene: HUWE1

Linked Data

• ClinVar Variation Id: 225389
• ClinVar RCV Id: RCV000490525
• dbSNP Id: rs1085307073
• MyVariant Identifiers: chrX:g.53565973G>A (hg19) ; chrX:g.53539012G>A (hg38)
• PubMed: PMID:18252223

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53539012G>A , CM000685.2:g.53539012G>A	GRCh38
NC_000023.10:g.53565973G>A , CM000685.1:g.53565973G>A	GRCh37
NC_000023.9:g.53582698G>A	NCBI36
NG_016261.2:g.152722C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000704099.1:c.11653C>T	ENSP00000515693.1:p.Arg3885Ter
ENST00000262854.11:c.11701C>T MANE Select	ENSP00000262854.6:p.Arg3901Ter
ENST00000262854.10:c.11701C>T	ENSP00000262854.6:p.Arg3901Ter
ENST00000342160.7:c.11701C>T	ENSP00000340648.3:p.Arg3901Ter
ENST00000426907.5:c.2168C>T
ENST00000612484.4:c.11674C>T	ENSP00000479451.1:p.Arg3892Ter
NM_031407.6:c.11701C>T	NP_113584.3:p.Arg3901Ter
XM_005261965.2:c.11701C>T	XP_005262022.1:p.Arg3901Ter
XM_011530746.1:c.11950C>T	XP_011529048.1:p.Arg3984Ter
XM_011530747.1:c.11950C>T	XP_011529049.1:p.Arg3984Ter
XM_011530748.1:c.11950C>T	XP_011529050.1:p.Arg3984Ter
XM_011530749.1:c.11950C>T	XP_011529051.1:p.Arg3984Ter
XM_011530750.1:c.11950C>T	XP_011529052.1:p.Arg3984Ter
XM_011530751.1:c.11950C>T	XP_011529053.1:p.Arg3984Ter
XM_011530752.1:c.11947C>T	XP_011529054.1:p.Arg3983Ter
XM_011530753.1:c.11905C>T	XP_011529055.1:p.Arg3969Ter
XM_011530754.1:c.11902C>T	XP_011529056.1:p.Arg3968Ter
XM_011530755.1:c.11899C>T	XP_011529057.1:p.Arg3967Ter
XM_011530756.1:c.11851C>T	XP_011529058.1:p.Arg3951Ter
XM_011530757.1:c.11548C>T	XP_011529059.1:p.Arg3850Ter
XR_938360.1:n.12137C>T
XM_005261965.4:c.11701C>T	XP_005262022.1:p.Arg3901Ter
XM_011530751.2:c.11950C>T	XP_011529053.1:p.Arg3984Ter
XM_017029191.1:c.12082C>T	XP_016884680.1:p.Arg4028Ter
XM_017029192.1:c.12079C>T	XP_016884681.1:p.Arg4027Ter
XM_017029193.1:c.12061C>T	XP_016884682.1:p.Arg4021Ter
XM_017029194.1:c.12037C>T	XP_016884683.1:p.Arg4013Ter
XM_017029195.1:c.12034C>T	XP_016884684.1:p.Arg4012Ter
XM_017029196.1:c.12031C>T	XP_016884685.1:p.Arg4011Ter
XM_017029197.1:c.11983C>T	XP_016884686.1:p.Arg3995Ter
XM_017029198.2:c.11971C>T	XP_016884687.1:p.Arg3991Ter
XM_017029199.1:c.11971C>T	XP_016884688.1:p.Arg3991Ter
XM_017029200.1:c.11971C>T	XP_016884689.1:p.Arg3991Ter
XM_017029201.1:c.11971C>T	XP_016884690.1:p.Arg3991Ter
XM_017029202.1:c.11971C>T	XP_016884691.1:p.Arg3991Ter
XM_017029203.1:c.11971C>T	XP_016884692.1:p.Arg3991Ter
XM_017029204.1:c.11833C>T	XP_016884693.1:p.Arg3945Ter
XM_017029206.1:c.11680C>T	XP_016884695.1:p.Arg3894Ter
XM_024452322.1:c.11950C>T	XP_024308090.1:p.Arg3984Ter
NM_031407.7:c.11701C>T MANE Select	NP_113584.3:p.Arg3901Ter