Canonical Allele Identifier: CA2646571979
Gene: GLMN HGNC NCBI

Linked Data

gnomAD v4: 1-92266579-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92266579C>G , CM000663.2:g.92266579C>G GRCh38
NC_000001.10:g.92732136C>G , CM000663.1:g.92732136C>G GRCh37
NC_000001.9:g.92504724C>G NCBI36
NG_009796.1:g.37431G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370360.8:c.1141-87G>C MANE Select ENSP00000359385.3:n.1141-87G>C
ENST00000370360.7:c.1141-87G>C ENSP00000359385.3:n.1141-87G>C
ENST00000463560.1:c.523G>C
ENST00000495106.5:c.1141-87G>C ENSP00000436829.1:n.1141-87G>C
ENST00000495852.6:c.364-87G>C ENSP00000469157.2:n.364-87G>C
NM_053274.2:c.1141-87G>C NP_444504.1:n.1141-87G>C
XM_005270400.1:c.1099-87G>C XP_005270457.1:n.1099-87G>C
XM_005270401.2:c.1015-87G>C XP_005270458.1:n.1015-87G>C
XM_006710309.1:c.640-87G>C XP_006710372.1:n.640-87G>C
XM_011540544.1:c.1141-87G>C XP_011538846.1:n.1141-87G>C
XM_011540545.1:c.1141-87G>C XP_011538847.1:n.1141-87G>C
XM_011540546.1:c.1141-87G>C XP_011538848.1:n.1141-87G>C
XR_946529.1:n.1270G>C
NM_001319683.1:c.1099-87G>C NP_001306612.1:n.1099-87G>C
NR_135089.1:n.1256-87G>C
XM_005270401.3:c.1015-87G>C XP_005270458.1:n.1015-87G>C
XM_006710309.2:c.640-87G>C XP_006710372.1:n.640-87G>C
XM_011540546.2:c.1141-87G>C XP_011538848.1:n.1141-87G>C
XM_017000137.1:c.1240-87G>C XP_016855626.1:n.1240-87G>C
XM_017000138.1:c.1198-87G>C XP_016855627.1:n.1198-87G>C
XM_017000139.1:c.1254G>C XP_016855628.1:p.Trp418Cys
XM_017000140.1:c.1114-87G>C XP_016855629.1:n.1114-87G>C
XM_017000141.1:c.1155G>C XP_016855630.1:p.Trp385Cys
XM_017000142.1:c.598-87G>C XP_016855631.1:n.598-87G>C
XM_017000143.1:c.598-87G>C XP_016855632.1:n.598-87G>C
XM_017000144.1:c.370-87G>C XP_016855633.1:n.370-87G>C
XR_002959248.1:n.1638G>C
XR_002959249.1:n.1270G>C
NM_053274.3:c.1141-87G>C MANE Select NP_444504.1:n.1141-87G>C
NM_001319683.2:c.1099-87G>C NP_001306612.1:n.1099-87G>C
NR_135089.2:n.1234-87G>C