Canonical Allele Identifier: CA329184709

Gene: HUWE1

Linked Data

• dbSNP Id: rs781938276
• MyVariant Identifiers: chrX:g.53564597C>A (hg19) ; chrX:g.53537636C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53537636C>A , CM000685.2:g.53537636C>A	GRCh38
NC_000023.10:g.53564597C>A , CM000685.1:g.53564597C>A	GRCh37
NC_000023.9:g.53581322C>A	NCBI36
NG_016261.2:g.154098G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.11841G>T	ENSP00000515693.1:p.Val3947=
ENST00000262854.11:c.12057G>T MANE Select	ENSP00000262854.6:p.Val4019=
ENST00000262854.10:c.12057G>T	ENSP00000262854.6:p.Val4019=
ENST00000342160.7:c.12057G>T	ENSP00000340648.3:p.Val4019=
ENST00000426907.5:c.2524G>T
ENST00000480438.1:n.192G>T
ENST00000612484.4:c.12030G>T	ENSP00000479451.1:p.Val4010=
NM_031407.6:c.12057G>T	NP_113584.3:p.Val4019=
XM_005261965.2:c.12057G>T	XP_005262022.1:p.Val4019=
XM_011530746.1:c.12306G>T	XP_011529048.1:p.Val4102=
XM_011530747.1:c.12306G>T	XP_011529049.1:p.Val4102=
XM_011530748.1:c.12306G>T	XP_011529050.1:p.Val4102=
XM_011530749.1:c.12306G>T	XP_011529051.1:p.Val4102=
XM_011530750.1:c.12306G>T	XP_011529052.1:p.Val4102=
XM_011530751.1:c.12306G>T	XP_011529053.1:p.Val4102=
XM_011530752.1:c.12303G>T	XP_011529054.1:p.Val4101=
XM_011530753.1:c.12261G>T	XP_011529055.1:p.Val4087=
XM_011530754.1:c.12258G>T	XP_011529056.1:p.Val4086=
XM_011530755.1:c.12255G>T	XP_011529057.1:p.Val4085=
XM_011530756.1:c.12207G>T	XP_011529058.1:p.Val4069=
XM_011530757.1:c.11904G>T	XP_011529059.1:p.Val3968=
XM_005261965.4:c.12057G>T	XP_005262022.1:p.Val4019=
XM_011530751.2:c.12306G>T	XP_011529053.1:p.Val4102=
XM_017029191.1:c.12438G>T	XP_016884680.1:p.Val4146=
XM_017029192.1:c.12435G>T	XP_016884681.1:p.Val4145=
XM_017029193.1:c.12417G>T	XP_016884682.1:p.Val4139=
XM_017029194.1:c.12393G>T	XP_016884683.1:p.Val4131=
XM_017029195.1:c.12390G>T	XP_016884684.1:p.Val4130=
XM_017029196.1:c.12387G>T	XP_016884685.1:p.Val4129=
XM_017029197.1:c.12339G>T	XP_016884686.1:p.Val4113=
XM_017029198.2:c.12327G>T	XP_016884687.1:p.Val4109=
XM_017029199.1:c.12327G>T	XP_016884688.1:p.Val4109=
XM_017029200.1:c.12327G>T	XP_016884689.1:p.Val4109=
XM_017029201.1:c.12327G>T	XP_016884690.1:p.Val4109=
XM_017029202.1:c.12327G>T	XP_016884691.1:p.Val4109=
XM_017029203.1:c.12327G>T	XP_016884692.1:p.Val4109=
XM_017029204.1:c.12189G>T	XP_016884693.1:p.Val4063=
XM_017029206.1:c.12036G>T	XP_016884695.1:p.Val4012=
XM_024452322.1:c.12306G>T	XP_024308090.1:p.Val4102=
NM_031407.7:c.12057G>T MANE Select	NP_113584.3:p.Val4019=