Canonical Allele Identifier: CA1815799

Gene: UXS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.106125655C>T , CM000664.2:g.106125655C>T	GRCh38
NC_000002.11:g.106742111C>T , CM000664.1:g.106742111C>T	GRCh37
NC_000002.10:g.106108543C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001253875.2:c.602G>A MANE Select	NP_001240804.1:p.Arg201His
ENST00000283148.12:c.602G>A MANE Select	ENSP00000283148.7:p.Arg201His
NM_001253875.1:c.602G>A	NP_001240804.1:p.Arg201His
NM_001253876.1:c.83G>A	NP_001240805.1:p.Arg28His
NM_001253876.2:c.83G>A	NP_001240805.1:p.Arg28His
NM_001377504.1:c.602G>A	NP_001364433.1:p.Arg201His
NM_001377505.1:c.587G>A	NP_001364434.1:p.Arg196His
NM_001377506.1:c.422G>A	NP_001364435.1:p.Arg141His
NM_001377507.1:c.602G>A	NP_001364436.1:p.Arg201His
NM_001377508.1:c.587G>A	NP_001364437.1:p.Arg196His
NM_001377509.1:c.263G>A	NP_001364438.1:p.Arg88His
NM_025076.4:c.587G>A	NP_079352.2:p.Arg196His
NM_025076.5:c.587G>A	NP_079352.2:p.Arg196His
NR_045607.1:n.636G>A
NR_045607.2:n.598G>A
NR_165308.1:n.767G>A
ENST00000283148.11:c.602G>A	ENSP00000283148.7:p.Arg201His
ENST00000409032.5:c.83G>A	ENSP00000387096.1:p.Arg28His
ENST00000409501.7:c.587G>A	ENSP00000387019.3:p.Arg196His
ENST00000416298.5:c.83G>A	ENSP00000403612.1:p.Arg28His
ENST00000436241.1:c.83G>A	ENSP00000397049.1:p.Arg28His
ENST00000441952.5:c.119G>A	ENSP00000416656.1:p.Arg40His
ENST00000444193.5:c.83G>A	ENSP00000404468.1:p.Arg28His
ENST00000457835.5:c.416G>A	ENSP00000399316.1:p.Arg139His
XM_006712775.2:c.602G>A	XP_006712838.1:p.Arg201His
XM_006712775.4:c.602G>A	XP_006712838.1:p.Arg201His
XM_011511902.1:c.557G>A	XP_011510204.1:p.Arg186His
XM_011511902.2:c.584G>A	XP_011510204.2:p.Arg195His
XM_011511903.1:c.542G>A	XP_011510205.1:p.Arg181His
XM_011511903.2:c.569G>A	XP_011510205.2:p.Arg190His
XM_011511904.1:c.422G>A	XP_011510206.1:p.Arg141His
XM_011511904.3:c.422G>A	XP_011510206.1:p.Arg141His
XM_017005008.1:c.602G>A	XP_016860497.1:p.Arg201His
XM_017005009.1:c.587G>A	XP_016860498.1:p.Arg196His
XM_017005010.1:c.587G>A	XP_016860499.1:p.Arg196His
XM_017005011.2:c.392G>A	XP_016860500.1:p.Arg131His
XM_017005012.2:c.392G>A	XP_016860501.1:p.Arg131His
XM_017005013.2:c.263G>A	XP_016860502.1:p.Arg88His
XM_017005014.2:c.83G>A	XP_016860503.1:p.Arg28His
XM_024453157.1:c.83G>A	XP_024308925.1:p.Arg28His