Canonical Allele Identifier: CA950327
Gene: GLMN HGNC NCBI

Linked Data

dbSNP Id: rs755672648
gnomAD v2: 1-92731984-T-C
gnomAD v4: 1-92266427-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92266427T>C , CM000663.2:g.92266427T>C GRCh38
NC_000001.10:g.92731984T>C , CM000663.1:g.92731984T>C GRCh37
NC_000001.9:g.92504572T>C NCBI36
NG_009796.1:g.37583A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370360.8:c.1206A>G MANE Select ENSP00000359385.3:p.Thr402=
ENST00000370360.7:c.1206A>G ENSP00000359385.3:p.Thr402=
ENST00000463560.1:c.562+113A>G
ENST00000495106.5:c.1206A>G ENSP00000436829.1:p.Thr402=
ENST00000495852.6:c.429A>G ENSP00000469157.2:p.Thr143=
NM_053274.2:c.1206A>G NP_444504.1:p.Thr402=
XM_005270400.1:c.1164A>G XP_005270457.1:p.Thr388=
XM_005270401.2:c.1080A>G XP_005270458.1:p.Thr360=
XM_006710309.1:c.705A>G XP_006710372.1:p.Thr235=
XM_011540544.1:c.1206A>G XP_011538846.1:p.Thr402=
XM_011540545.1:c.1206A>G XP_011538847.1:p.Thr402=
XM_011540546.1:c.1206A>G XP_011538848.1:p.Thr402=
XR_946529.1:n.1309+113A>G
NM_001319683.1:c.1164A>G NP_001306612.1:p.Thr388=
NR_135089.1:n.1321A>G
XM_005270401.3:c.1080A>G XP_005270458.1:p.Thr360=
XM_006710309.2:c.705A>G XP_006710372.1:p.Thr235=
XM_011540546.2:c.1206A>G XP_011538848.1:p.Thr402=
XM_017000137.1:c.1305A>G XP_016855626.1:p.Thr435=
XM_017000138.1:c.1263A>G XP_016855627.1:p.Thr421=
XM_017000139.1:c.1293+113A>G XP_016855628.1:n.1293+113A>G
XM_017000140.1:c.1179A>G XP_016855629.1:p.Thr393=
XM_017000141.1:c.1194+113A>G XP_016855630.1:n.1194+113A>G
XM_017000142.1:c.663A>G XP_016855631.1:p.Thr221=
XM_017000143.1:c.663A>G XP_016855632.1:p.Thr221=
XM_017000144.1:c.435A>G XP_016855633.1:p.Thr145=
XR_002959248.1:n.1677+113A>G
XR_002959249.1:n.1309+113A>G
NM_053274.3:c.1206A>G MANE Select NP_444504.1:p.Thr402=
NM_001319683.2:c.1164A>G NP_001306612.1:p.Thr388=
NR_135089.2:n.1299A>G