Canonical Allele Identifier: CA1180698928
Gene: GLMN HGNC NCBI

Linked Data

dbSNP Id: rs1655659198
gnomAD v4: 1-92266570-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92266570G>A , CM000663.2:g.92266570G>A GRCh38
NC_000001.10:g.92732127G>A , CM000663.1:g.92732127G>A GRCh37
NC_000001.9:g.92504715G>A NCBI36
NG_009796.1:g.37440C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370360.8:c.1141-78C>T MANE Select ENSP00000359385.3:n.1141-78C>T
ENST00000370360.7:c.1141-78C>T ENSP00000359385.3:n.1141-78C>T
ENST00000463560.1:c.532C>T
ENST00000495106.5:c.1141-78C>T ENSP00000436829.1:n.1141-78C>T
ENST00000495852.6:c.364-78C>T ENSP00000469157.2:n.364-78C>T
NM_053274.2:c.1141-78C>T NP_444504.1:n.1141-78C>T
XM_005270400.1:c.1099-78C>T XP_005270457.1:n.1099-78C>T
XM_005270401.2:c.1015-78C>T XP_005270458.1:n.1015-78C>T
XM_006710309.1:c.640-78C>T XP_006710372.1:n.640-78C>T
XM_011540544.1:c.1141-78C>T XP_011538846.1:n.1141-78C>T
XM_011540545.1:c.1141-78C>T XP_011538847.1:n.1141-78C>T
XM_011540546.1:c.1141-78C>T XP_011538848.1:n.1141-78C>T
XR_946529.1:n.1279C>T
NM_001319683.1:c.1099-78C>T NP_001306612.1:n.1099-78C>T
NR_135089.1:n.1256-78C>T
XM_005270401.3:c.1015-78C>T XP_005270458.1:n.1015-78C>T
XM_006710309.2:c.640-78C>T XP_006710372.1:n.640-78C>T
XM_011540546.2:c.1141-78C>T XP_011538848.1:n.1141-78C>T
XM_017000137.1:c.1240-78C>T XP_016855626.1:n.1240-78C>T
XM_017000138.1:c.1198-78C>T XP_016855627.1:n.1198-78C>T
XM_017000139.1:c.1263C>T XP_016855628.1:p.Tyr421=
XM_017000140.1:c.1114-78C>T XP_016855629.1:n.1114-78C>T
XM_017000141.1:c.1164C>T XP_016855630.1:p.Tyr388=
XM_017000142.1:c.598-78C>T XP_016855631.1:n.598-78C>T
XM_017000143.1:c.598-78C>T XP_016855632.1:n.598-78C>T
XM_017000144.1:c.370-78C>T XP_016855633.1:n.370-78C>T
XR_002959248.1:n.1647C>T
XR_002959249.1:n.1279C>T
NM_053274.3:c.1141-78C>T MANE Select NP_444504.1:n.1141-78C>T
NM_001319683.2:c.1099-78C>T NP_001306612.1:n.1099-78C>T
NR_135089.2:n.1234-78C>T