Canonical Allele Identifier: CA413147130

Gene: HUWE1

Linked Data

• gnomAD v4: X-53534689-G-C
• MyVariant Identifiers: chrX:g.53561650G>C (hg19) ; chrX:g.53534689G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534689G>C , CM000685.2:g.53534689G>C	GRCh38
NC_000023.10:g.53561650G>C , CM000685.1:g.53561650G>C	GRCh37
NC_000023.9:g.53578375G>C	NCBI36
NG_016261.2:g.157045C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12442C>G	ENSP00000515693.1:p.Arg4148Gly
ENST00000262854.11:c.12658C>G MANE Select	ENSP00000262854.6:p.Arg4220Gly
ENST00000262854.10:c.12658C>G	ENSP00000262854.6:p.Arg4220Gly
ENST00000342160.7:c.12658C>G	ENSP00000340648.3:p.Arg4220Gly
ENST00000426907.5:c.3125C>G
ENST00000612484.4:c.12631C>G	ENSP00000479451.1:p.Arg4211Gly
NM_031407.6:c.12658C>G	NP_113584.3:p.Arg4220Gly
XM_005261965.2:c.12658C>G	XP_005262022.1:p.Arg4220Gly
XM_011530746.1:c.12907C>G	XP_011529048.1:p.Arg4303Gly
XM_011530747.1:c.12907C>G	XP_011529049.1:p.Arg4303Gly
XM_011530748.1:c.12907C>G	XP_011529050.1:p.Arg4303Gly
XM_011530749.1:c.12907C>G	XP_011529051.1:p.Arg4303Gly
XM_011530750.1:c.12907C>G	XP_011529052.1:p.Arg4303Gly
XM_011530751.1:c.12907C>G	XP_011529053.1:p.Arg4303Gly
XM_011530752.1:c.12904C>G	XP_011529054.1:p.Arg4302Gly
XM_011530753.1:c.12862C>G	XP_011529055.1:p.Arg4288Gly
XM_011530754.1:c.12859C>G	XP_011529056.1:p.Arg4287Gly
XM_011530755.1:c.12856C>G	XP_011529057.1:p.Arg4286Gly
XM_011530756.1:c.12808C>G	XP_011529058.1:p.Arg4270Gly
XM_011530757.1:c.12505C>G	XP_011529059.1:p.Arg4169Gly
XM_005261965.4:c.12658C>G	XP_005262022.1:p.Arg4220Gly
XM_011530751.2:c.12907C>G	XP_011529053.1:p.Arg4303Gly
XM_017029191.1:c.13039C>G	XP_016884680.1:p.Arg4347Gly
XM_017029192.1:c.13036C>G	XP_016884681.1:p.Arg4346Gly
XM_017029193.1:c.13018C>G	XP_016884682.1:p.Arg4340Gly
XM_017029194.1:c.12994C>G	XP_016884683.1:p.Arg4332Gly
XM_017029195.1:c.12991C>G	XP_016884684.1:p.Arg4331Gly
XM_017029196.1:c.12988C>G	XP_016884685.1:p.Arg4330Gly
XM_017029197.1:c.12940C>G	XP_016884686.1:p.Arg4314Gly
XM_017029198.2:c.12928C>G	XP_016884687.1:p.Arg4310Gly
XM_017029199.1:c.12928C>G	XP_016884688.1:p.Arg4310Gly
XM_017029200.1:c.12928C>G	XP_016884689.1:p.Arg4310Gly
XM_017029201.1:c.12928C>G	XP_016884690.1:p.Arg4310Gly
XM_017029202.1:c.12928C>G	XP_016884691.1:p.Arg4310Gly
XM_017029203.1:c.12928C>G	XP_016884692.1:p.Arg4310Gly
XM_017029204.1:c.12790C>G	XP_016884693.1:p.Arg4264Gly
XM_017029206.1:c.12637C>G	XP_016884695.1:p.Arg4213Gly
XM_024452322.1:c.12907C>G	XP_024308090.1:p.Arg4303Gly
NM_031407.7:c.12658C>G MANE Select	NP_113584.3:p.Arg4220Gly