Canonical Allele Identifier: CA341099543
Gene: GLMN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92266426A>T , CM000663.2:g.92266426A>T GRCh38
NC_000001.10:g.92731983A>T , CM000663.1:g.92731983A>T GRCh37
NC_000001.9:g.92504571A>T NCBI36
NG_009796.1:g.37584T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370360.8:c.1207T>A MANE Select ENSP00000359385.3:p.Leu403Ile
ENST00000370360.7:c.1207T>A ENSP00000359385.3:p.Leu403Ile
ENST00000463560.1:c.562+114T>A
ENST00000495106.5:c.1207T>A ENSP00000436829.1:p.Leu403Ile
ENST00000495852.6:c.430T>A ENSP00000469157.2:p.Leu144Ile
NM_053274.2:c.1207T>A NP_444504.1:p.Leu403Ile
XM_005270400.1:c.1165T>A XP_005270457.1:p.Leu389Ile
XM_005270401.2:c.1081T>A XP_005270458.1:p.Leu361Ile
XM_006710309.1:c.706T>A XP_006710372.1:p.Leu236Ile
XM_011540544.1:c.1207T>A XP_011538846.1:p.Leu403Ile
XM_011540545.1:c.1207T>A XP_011538847.1:p.Leu403Ile
XM_011540546.1:c.1207T>A XP_011538848.1:p.Leu403Ile
XR_946529.1:n.1309+114T>A
NM_001319683.1:c.1165T>A NP_001306612.1:p.Leu389Ile
NR_135089.1:n.1322T>A
XM_005270401.3:c.1081T>A XP_005270458.1:p.Leu361Ile
XM_006710309.2:c.706T>A XP_006710372.1:p.Leu236Ile
XM_011540546.2:c.1207T>A XP_011538848.1:p.Leu403Ile
XM_017000137.1:c.1306T>A XP_016855626.1:p.Leu436Ile
XM_017000138.1:c.1264T>A XP_016855627.1:p.Leu422Ile
XM_017000139.1:c.1293+114T>A XP_016855628.1:n.1293+114T>A
XM_017000140.1:c.1180T>A XP_016855629.1:p.Leu394Ile
XM_017000141.1:c.1194+114T>A XP_016855630.1:n.1194+114T>A
XM_017000142.1:c.664T>A XP_016855631.1:p.Leu222Ile
XM_017000143.1:c.664T>A XP_016855632.1:p.Leu222Ile
XM_017000144.1:c.436T>A XP_016855633.1:p.Leu146Ile
XR_002959248.1:n.1677+114T>A
XR_002959249.1:n.1309+114T>A
NM_053274.3:c.1207T>A MANE Select NP_444504.1:p.Leu403Ile
NM_001319683.2:c.1165T>A NP_001306612.1:p.Leu389Ile
NR_135089.2:n.1300T>A