Canonical Allele Identifier: CA341099527
Gene: GLMN HGNC NCBI

Linked Data

dbSNP Id: rs1655634049
gnomAD v4: 1-92266422-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92266422A>G , CM000663.2:g.92266422A>G GRCh38
NC_000001.10:g.92731979A>G , CM000663.1:g.92731979A>G GRCh37
NC_000001.9:g.92504567A>G NCBI36
NG_009796.1:g.37588T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370360.8:c.1211T>C MANE Select ENSP00000359385.3:p.Phe404Ser
ENST00000370360.7:c.1211T>C ENSP00000359385.3:p.Phe404Ser
ENST00000463560.1:c.562+118T>C
ENST00000495106.5:c.1211T>C ENSP00000436829.1:p.Phe404Ser
ENST00000495852.6:c.434T>C ENSP00000469157.2:p.Phe145Ser
NM_053274.2:c.1211T>C NP_444504.1:p.Phe404Ser
XM_005270400.1:c.1169T>C XP_005270457.1:p.Phe390Ser
XM_005270401.2:c.1085T>C XP_005270458.1:p.Phe362Ser
XM_006710309.1:c.710T>C XP_006710372.1:p.Phe237Ser
XM_011540544.1:c.1211T>C XP_011538846.1:p.Phe404Ser
XM_011540545.1:c.1211T>C XP_011538847.1:p.Phe404Ser
XM_011540546.1:c.1211T>C XP_011538848.1:p.Phe404Ser
XR_946529.1:n.1309+118T>C
NM_001319683.1:c.1169T>C NP_001306612.1:p.Phe390Ser
NR_135089.1:n.1326T>C
XM_005270401.3:c.1085T>C XP_005270458.1:p.Phe362Ser
XM_006710309.2:c.710T>C XP_006710372.1:p.Phe237Ser
XM_011540546.2:c.1211T>C XP_011538848.1:p.Phe404Ser
XM_017000137.1:c.1310T>C XP_016855626.1:p.Phe437Ser
XM_017000138.1:c.1268T>C XP_016855627.1:p.Phe423Ser
XM_017000139.1:c.1293+118T>C XP_016855628.1:n.1293+118T>C
XM_017000140.1:c.1184T>C XP_016855629.1:p.Phe395Ser
XM_017000141.1:c.1194+118T>C XP_016855630.1:n.1194+118T>C
XM_017000142.1:c.668T>C XP_016855631.1:p.Phe223Ser
XM_017000143.1:c.668T>C XP_016855632.1:p.Phe223Ser
XM_017000144.1:c.440T>C XP_016855633.1:p.Phe147Ser
XR_002959248.1:n.1677+118T>C
XR_002959249.1:n.1309+118T>C
NM_053274.3:c.1211T>C MANE Select NP_444504.1:p.Phe404Ser
NM_001319683.2:c.1169T>C NP_001306612.1:p.Phe390Ser
NR_135089.2:n.1304T>C