Canonical Allele Identifier: CA341099580
Gene: GLMN HGNC NCBI

Linked Data

gnomAD v4: 1-92266434-T-C

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000370360.8:c.1199A>G MANE Select ENSP00000359385.3:p.Lys400Arg
ENST00000370360.7:c.1199A>G ENSP00000359385.3:p.Lys400Arg
ENST00000463560.1:c.562+106A>G
ENST00000495106.5:c.1199A>G ENSP00000436829.1:p.Lys400Arg
ENST00000495852.6:c.422A>G ENSP00000469157.2:p.Lys141Arg
NM_053274.2:c.1199A>G NP_444504.1:p.Lys400Arg
XM_005270400.1:c.1157A>G XP_005270457.1:p.Lys386Arg
XM_005270401.2:c.1073A>G XP_005270458.1:p.Lys358Arg
XM_006710309.1:c.698A>G XP_006710372.1:p.Lys233Arg
XM_011540544.1:c.1199A>G XP_011538846.1:p.Lys400Arg
XM_011540545.1:c.1199A>G XP_011538847.1:p.Lys400Arg
XM_011540546.1:c.1199A>G XP_011538848.1:p.Lys400Arg
XR_946529.1:n.1309+106A>G
NM_001319683.1:c.1157A>G NP_001306612.1:p.Lys386Arg
NR_135089.1:n.1314A>G
XM_005270401.3:c.1073A>G XP_005270458.1:p.Lys358Arg
XM_006710309.2:c.698A>G XP_006710372.1:p.Lys233Arg
XM_011540546.2:c.1199A>G XP_011538848.1:p.Lys400Arg
XM_017000137.1:c.1298A>G XP_016855626.1:p.Lys433Arg
XM_017000138.1:c.1256A>G XP_016855627.1:p.Lys419Arg
XM_017000139.1:c.1293+106A>G XP_016855628.1:n.1293+106A>G
XM_017000140.1:c.1172A>G XP_016855629.1:p.Lys391Arg
XM_017000141.1:c.1194+106A>G XP_016855630.1:n.1194+106A>G
XM_017000142.1:c.656A>G XP_016855631.1:p.Lys219Arg
XM_017000143.1:c.656A>G XP_016855632.1:p.Lys219Arg
XM_017000144.1:c.428A>G XP_016855633.1:p.Lys143Arg
XR_002959248.1:n.1677+106A>G
XR_002959249.1:n.1309+106A>G
NM_053274.3:c.1199A>G MANE Select NP_444504.1:p.Lys400Arg
NM_001319683.2:c.1157A>G NP_001306612.1:p.Lys386Arg
NR_135089.2:n.1292A>G