Canonical Allele Identifier: CA341099583
Gene: GLMN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92266434T>A , CM000663.2:g.92266434T>A GRCh38
NC_000001.10:g.92731991T>A , CM000663.1:g.92731991T>A GRCh37
NC_000001.9:g.92504579T>A NCBI36
NG_009796.1:g.37576A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370360.8:c.1199A>T MANE Select ENSP00000359385.3:p.Lys400Ile
ENST00000370360.7:c.1199A>T ENSP00000359385.3:p.Lys400Ile
ENST00000463560.1:c.562+106A>T
ENST00000495106.5:c.1199A>T ENSP00000436829.1:p.Lys400Ile
ENST00000495852.6:c.422A>T ENSP00000469157.2:p.Lys141Ile
NM_053274.2:c.1199A>T NP_444504.1:p.Lys400Ile
XM_005270400.1:c.1157A>T XP_005270457.1:p.Lys386Ile
XM_005270401.2:c.1073A>T XP_005270458.1:p.Lys358Ile
XM_006710309.1:c.698A>T XP_006710372.1:p.Lys233Ile
XM_011540544.1:c.1199A>T XP_011538846.1:p.Lys400Ile
XM_011540545.1:c.1199A>T XP_011538847.1:p.Lys400Ile
XM_011540546.1:c.1199A>T XP_011538848.1:p.Lys400Ile
XR_946529.1:n.1309+106A>T
NM_001319683.1:c.1157A>T NP_001306612.1:p.Lys386Ile
NR_135089.1:n.1314A>T
XM_005270401.3:c.1073A>T XP_005270458.1:p.Lys358Ile
XM_006710309.2:c.698A>T XP_006710372.1:p.Lys233Ile
XM_011540546.2:c.1199A>T XP_011538848.1:p.Lys400Ile
XM_017000137.1:c.1298A>T XP_016855626.1:p.Lys433Ile
XM_017000138.1:c.1256A>T XP_016855627.1:p.Lys419Ile
XM_017000139.1:c.1293+106A>T XP_016855628.1:n.1293+106A>T
XM_017000140.1:c.1172A>T XP_016855629.1:p.Lys391Ile
XM_017000141.1:c.1194+106A>T XP_016855630.1:n.1194+106A>T
XM_017000142.1:c.656A>T XP_016855631.1:p.Lys219Ile
XM_017000143.1:c.656A>T XP_016855632.1:p.Lys219Ile
XM_017000144.1:c.428A>T XP_016855633.1:p.Lys143Ile
XR_002959248.1:n.1677+106A>T
XR_002959249.1:n.1309+106A>T
NM_053274.3:c.1199A>T MANE Select NP_444504.1:p.Lys400Ile
NM_001319683.2:c.1157A>T NP_001306612.1:p.Lys386Ile
NR_135089.2:n.1292A>T