Canonical Allele Identifier: CA413145120

Gene: HUWE1

Linked Data

• gnomAD v4: X-53534160-T-G
• MyVariant Identifiers: chrX:g.53561121T>G (hg19) ; chrX:g.53534160T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53534160T>G , CM000685.2:g.53534160T>G	GRCh38
NC_000023.10:g.53561121T>G , CM000685.1:g.53561121T>G	GRCh37
NC_000023.9:g.53577846T>G	NCBI36
NG_016261.2:g.157574A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704099.1:c.12653A>C	ENSP00000515693.1:p.Gln4218Pro
ENST00000262854.11:c.12869A>C MANE Select	ENSP00000262854.6:p.Gln4290Pro
ENST00000262854.10:c.12869A>C	ENSP00000262854.6:p.Gln4290Pro
ENST00000342160.7:c.12869A>C	ENSP00000340648.3:p.Gln4290Pro
ENST00000426907.5:c.3336A>C
ENST00000488459.1:n.182A>C
ENST00000612484.4:c.12842A>C	ENSP00000479451.1:p.Gln4281Pro
NM_031407.6:c.12869A>C	NP_113584.3:p.Gln4290Pro
XM_005261965.2:c.12869A>C	XP_005262022.1:p.Gln4290Pro
XM_011530746.1:c.13118A>C	XP_011529048.1:p.Gln4373Pro
XM_011530747.1:c.13118A>C	XP_011529049.1:p.Gln4373Pro
XM_011530748.1:c.13118A>C	XP_011529050.1:p.Gln4373Pro
XM_011530749.1:c.13118A>C	XP_011529051.1:p.Gln4373Pro
XM_011530750.1:c.13118A>C	XP_011529052.1:p.Gln4373Pro
XM_011530751.1:c.13118A>C	XP_011529053.1:p.Gln4373Pro
XM_011530752.1:c.13115A>C	XP_011529054.1:p.Gln4372Pro
XM_011530753.1:c.13073A>C	XP_011529055.1:p.Gln4358Pro
XM_011530754.1:c.13070A>C	XP_011529056.1:p.Gln4357Pro
XM_011530755.1:c.13067A>C	XP_011529057.1:p.Gln4356Pro
XM_011530756.1:c.13019A>C	XP_011529058.1:p.Gln4340Pro
XM_011530757.1:c.12716A>C	XP_011529059.1:p.Gln4239Pro
XM_005261965.4:c.12869A>C	XP_005262022.1:p.Gln4290Pro
XM_011530751.2:c.13118A>C	XP_011529053.1:p.Gln4373Pro
XM_017029191.1:c.13250A>C	XP_016884680.1:p.Gln4417Pro
XM_017029192.1:c.13247A>C	XP_016884681.1:p.Gln4416Pro
XM_017029193.1:c.13229A>C	XP_016884682.1:p.Gln4410Pro
XM_017029194.1:c.13205A>C	XP_016884683.1:p.Gln4402Pro
XM_017029195.1:c.13202A>C	XP_016884684.1:p.Gln4401Pro
XM_017029196.1:c.13199A>C	XP_016884685.1:p.Gln4400Pro
XM_017029197.1:c.13151A>C	XP_016884686.1:p.Gln4384Pro
XM_017029198.2:c.13139A>C	XP_016884687.1:p.Gln4380Pro
XM_017029199.1:c.13139A>C	XP_016884688.1:p.Gln4380Pro
XM_017029200.1:c.13139A>C	XP_016884689.1:p.Gln4380Pro
XM_017029201.1:c.13139A>C	XP_016884690.1:p.Gln4380Pro
XM_017029202.1:c.13139A>C	XP_016884691.1:p.Gln4380Pro
XM_017029203.1:c.13139A>C	XP_016884692.1:p.Gln4380Pro
XM_017029204.1:c.13001A>C	XP_016884693.1:p.Gln4334Pro
XM_017029206.1:c.12848A>C	XP_016884695.1:p.Gln4283Pro
XM_024452322.1:c.13118A>C	XP_024308090.1:p.Gln4373Pro
NM_031407.7:c.12869A>C MANE Select	NP_113584.3:p.Gln4290Pro