Canonical Allele Identifier: CA418785868
Gene: GLMN HGNC NCBI

Linked Data

dbSNP Id: rs1338981957
gnomAD v2: 1-92732020-C-T
gnomAD v4: 1-92266463-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92266463C>T , CM000663.2:g.92266463C>T GRCh38
NC_000001.10:g.92732020C>T , CM000663.1:g.92732020C>T GRCh37
NC_000001.9:g.92504608C>T NCBI36
NG_009796.1:g.37547G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370360.8:c.1170G>A MANE Select ENSP00000359385.3:p.Leu390=
ENST00000370360.7:c.1170G>A ENSP00000359385.3:p.Leu390=
ENST00000463560.1:c.562+77G>A
ENST00000495106.5:c.1170G>A ENSP00000436829.1:p.Leu390=
ENST00000495852.6:c.393G>A ENSP00000469157.2:p.Leu131=
NM_053274.2:c.1170G>A NP_444504.1:p.Leu390=
XM_005270400.1:c.1128G>A XP_005270457.1:p.Leu376=
XM_005270401.2:c.1044G>A XP_005270458.1:p.Leu348=
XM_006710309.1:c.669G>A XP_006710372.1:p.Leu223=
XM_011540544.1:c.1170G>A XP_011538846.1:p.Leu390=
XM_011540545.1:c.1170G>A XP_011538847.1:p.Leu390=
XM_011540546.1:c.1170G>A XP_011538848.1:p.Leu390=
XR_946529.1:n.1309+77G>A
NM_001319683.1:c.1128G>A NP_001306612.1:p.Leu376=
NR_135089.1:n.1285G>A
XM_005270401.3:c.1044G>A XP_005270458.1:p.Leu348=
XM_006710309.2:c.669G>A XP_006710372.1:p.Leu223=
XM_011540546.2:c.1170G>A XP_011538848.1:p.Leu390=
XM_017000137.1:c.1269G>A XP_016855626.1:p.Leu423=
XM_017000138.1:c.1227G>A XP_016855627.1:p.Leu409=
XM_017000139.1:c.1293+77G>A XP_016855628.1:n.1293+77G>A
XM_017000140.1:c.1143G>A XP_016855629.1:p.Leu381=
XM_017000141.1:c.1194+77G>A XP_016855630.1:n.1194+77G>A
XM_017000142.1:c.627G>A XP_016855631.1:p.Leu209=
XM_017000143.1:c.627G>A XP_016855632.1:p.Leu209=
XM_017000144.1:c.399G>A XP_016855633.1:p.Leu133=
XR_002959248.1:n.1677+77G>A
XR_002959249.1:n.1309+77G>A
NM_053274.3:c.1170G>A MANE Select NP_444504.1:p.Leu390=
NM_001319683.2:c.1128G>A NP_001306612.1:p.Leu376=
NR_135089.2:n.1263G>A