Canonical Allele Identifier: CA418785845
Gene: GLMN HGNC NCBI

Linked Data

gnomAD v4: 1-92266421-A-G
MyVariant Identifiers: chr1:g.92731978A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92266421A>G , CM000663.2:g.92266421A>G GRCh38
NC_000001.10:g.92731978A>G , CM000663.1:g.92731978A>G GRCh37
NC_000001.9:g.92504566A>G NCBI36
NG_009796.1:g.37589T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370360.8:c.1212T>C MANE Select ENSP00000359385.3:p.Phe404=
ENST00000370360.7:c.1212T>C ENSP00000359385.3:p.Phe404=
ENST00000463560.1:c.562+119T>C
ENST00000495106.5:c.1212T>C ENSP00000436829.1:p.Phe404=
ENST00000495852.6:c.435T>C ENSP00000469157.2:p.Phe145=
NM_053274.2:c.1212T>C NP_444504.1:p.Phe404=
XM_005270400.1:c.1170T>C XP_005270457.1:p.Phe390=
XM_005270401.2:c.1086T>C XP_005270458.1:p.Phe362=
XM_006710309.1:c.711T>C XP_006710372.1:p.Phe237=
XM_011540544.1:c.1212T>C XP_011538846.1:p.Phe404=
XM_011540545.1:c.1212T>C XP_011538847.1:p.Phe404=
XM_011540546.1:c.1212T>C XP_011538848.1:p.Phe404=
XR_946529.1:n.1309+119T>C
NM_001319683.1:c.1170T>C NP_001306612.1:p.Phe390=
NR_135089.1:n.1327T>C
XM_005270401.3:c.1086T>C XP_005270458.1:p.Phe362=
XM_006710309.2:c.711T>C XP_006710372.1:p.Phe237=
XM_011540546.2:c.1212T>C XP_011538848.1:p.Phe404=
XM_017000137.1:c.1311T>C XP_016855626.1:p.Phe437=
XM_017000138.1:c.1269T>C XP_016855627.1:p.Phe423=
XM_017000139.1:c.1293+119T>C XP_016855628.1:n.1293+119T>C
XM_017000140.1:c.1185T>C XP_016855629.1:p.Phe395=
XM_017000141.1:c.1194+119T>C XP_016855630.1:n.1194+119T>C
XM_017000142.1:c.669T>C XP_016855631.1:p.Phe223=
XM_017000143.1:c.669T>C XP_016855632.1:p.Phe223=
XM_017000144.1:c.441T>C XP_016855633.1:p.Phe147=
XR_002959248.1:n.1677+119T>C
XR_002959249.1:n.1309+119T>C
NM_053274.3:c.1212T>C MANE Select NP_444504.1:p.Phe404=
NM_001319683.2:c.1170T>C NP_001306612.1:p.Phe390=
NR_135089.2:n.1305T>C