Canonical Allele Identifier: CA2646571951
Gene: GLMN HGNC NCBI

Linked Data

gnomAD v4: 1-92266540-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92266540C>A , CM000663.2:g.92266540C>A GRCh38
NC_000001.10:g.92732097C>A , CM000663.1:g.92732097C>A GRCh37
NC_000001.9:g.92504685C>A NCBI36
NG_009796.1:g.37470G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370360.8:c.1141-48G>T MANE Select ENSP00000359385.3:n.1141-48G>T
ENST00000370360.7:c.1141-48G>T ENSP00000359385.3:n.1141-48G>T
ENST00000463560.1:c.562G>T
ENST00000495106.5:c.1141-48G>T ENSP00000436829.1:n.1141-48G>T
ENST00000495852.6:c.364-48G>T ENSP00000469157.2:n.364-48G>T
NM_053274.2:c.1141-48G>T NP_444504.1:n.1141-48G>T
XM_005270400.1:c.1099-48G>T XP_005270457.1:n.1099-48G>T
XM_005270401.2:c.1015-48G>T XP_005270458.1:n.1015-48G>T
XM_006710309.1:c.640-48G>T XP_006710372.1:n.640-48G>T
XM_011540544.1:c.1141-48G>T XP_011538846.1:n.1141-48G>T
XM_011540545.1:c.1141-48G>T XP_011538847.1:n.1141-48G>T
XM_011540546.1:c.1141-48G>T XP_011538848.1:n.1141-48G>T
XR_946529.1:n.1309G>T
NM_001319683.1:c.1099-48G>T NP_001306612.1:n.1099-48G>T
NR_135089.1:n.1256-48G>T
XM_005270401.3:c.1015-48G>T XP_005270458.1:n.1015-48G>T
XM_006710309.2:c.640-48G>T XP_006710372.1:n.640-48G>T
XM_011540546.2:c.1141-48G>T XP_011538848.1:n.1141-48G>T
XM_017000137.1:c.1240-48G>T XP_016855626.1:n.1240-48G>T
XM_017000138.1:c.1198-48G>T XP_016855627.1:n.1198-48G>T
XM_017000139.1:c.1293G>T XP_016855628.1:p.Trp431Cys
XM_017000140.1:c.1114-48G>T XP_016855629.1:n.1114-48G>T
XM_017000141.1:c.1194G>T XP_016855630.1:p.Trp398Cys
XM_017000142.1:c.598-48G>T XP_016855631.1:n.598-48G>T
XM_017000143.1:c.598-48G>T XP_016855632.1:n.598-48G>T
XM_017000144.1:c.370-48G>T XP_016855633.1:n.370-48G>T
XR_002959248.1:n.1677G>T
XR_002959249.1:n.1309G>T
NM_053274.3:c.1141-48G>T MANE Select NP_444504.1:n.1141-48G>T
NM_001319683.2:c.1099-48G>T NP_001306612.1:n.1099-48G>T
NR_135089.2:n.1234-48G>T