Canonical Allele Identifier: CA950348
Gene: GLMN HGNC NCBI

Linked Data

dbSNP Id: rs765951626
gnomAD v2: 1-92732144-G-A
gnomAD v3: 1-92266587-G-A
gnomAD v4: 1-92266587-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92266587G>A , CM000663.2:g.92266587G>A GRCh38
NC_000001.10:g.92732144G>A , CM000663.1:g.92732144G>A GRCh37
NC_000001.9:g.92504732G>A NCBI36
NG_009796.1:g.37423C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370360.8:c.1141-95C>T MANE Select ENSP00000359385.3:n.1141-95C>T
ENST00000370360.7:c.1141-95C>T ENSP00000359385.3:n.1141-95C>T
ENST00000463560.1:c.515C>T
ENST00000495106.5:c.1141-95C>T ENSP00000436829.1:n.1141-95C>T
ENST00000495852.6:c.364-95C>T ENSP00000469157.2:n.364-95C>T
NM_053274.2:c.1141-95C>T NP_444504.1:n.1141-95C>T
XM_005270400.1:c.1099-95C>T XP_005270457.1:n.1099-95C>T
XM_005270401.2:c.1015-95C>T XP_005270458.1:n.1015-95C>T
XM_006710309.1:c.640-95C>T XP_006710372.1:n.640-95C>T
XM_011540544.1:c.1141-95C>T XP_011538846.1:n.1141-95C>T
XM_011540545.1:c.1141-95C>T XP_011538847.1:n.1141-95C>T
XM_011540546.1:c.1141-95C>T XP_011538848.1:n.1141-95C>T
XR_946529.1:n.1262C>T
NM_001319683.1:c.1099-95C>T NP_001306612.1:n.1099-95C>T
NR_135089.1:n.1256-95C>T
XM_005270401.3:c.1015-95C>T XP_005270458.1:n.1015-95C>T
XM_006710309.2:c.640-95C>T XP_006710372.1:n.640-95C>T
XM_011540546.2:c.1141-95C>T XP_011538848.1:n.1141-95C>T
XM_017000137.1:c.1240-95C>T XP_016855626.1:n.1240-95C>T
XM_017000138.1:c.1198-95C>T XP_016855627.1:n.1198-95C>T
XM_017000139.1:c.1246C>T XP_016855628.1:p.Gln416Ter
XM_017000140.1:c.1114-95C>T XP_016855629.1:n.1114-95C>T
XM_017000141.1:c.1147C>T XP_016855630.1:p.Gln383Ter
XM_017000142.1:c.598-95C>T XP_016855631.1:n.598-95C>T
XM_017000143.1:c.598-95C>T XP_016855632.1:n.598-95C>T
XM_017000144.1:c.370-95C>T XP_016855633.1:n.370-95C>T
XR_002959248.1:n.1630C>T
XR_002959249.1:n.1262C>T
NM_053274.3:c.1141-95C>T MANE Select NP_444504.1:n.1141-95C>T
NM_001319683.2:c.1099-95C>T NP_001306612.1:n.1099-95C>T
NR_135089.2:n.1234-95C>T