Canonical Allele Identifier: CA950328

Gene: GLMN

Linked Data

• ClinVar Variation Id: 1049478
• ClinVar RCV Id: RCV001355634
• dbSNP Id: rs374766335
• ExAC: 1:92731986 T / C
• gnomAD v2: 1-92731986-T-C
• gnomAD v3: 1-92266429-T-C
• gnomAD v4: 1-92266429-T-C
• MyVariant Identifiers: chr1:g.92731986T>C (hg19) ; chr1:g.92266429T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92266429T>C , CM000663.2:g.92266429T>C	GRCh38
NC_000001.10:g.92731986T>C , CM000663.1:g.92731986T>C	GRCh37
NC_000001.9:g.92504574T>C	NCBI36
NG_009796.1:g.37581A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370360.8:c.1204A>G MANE Select	ENSP00000359385.3:p.Thr402Ala
ENST00000370360.7:c.1204A>G	ENSP00000359385.3:p.Thr402Ala
ENST00000463560.1:c.562+111A>G
ENST00000495106.5:c.1204A>G	ENSP00000436829.1:p.Thr402Ala
ENST00000495852.6:c.427A>G	ENSP00000469157.2:p.Thr143Ala
NM_053274.2:c.1204A>G	NP_444504.1:p.Thr402Ala
XM_005270400.1:c.1162A>G	XP_005270457.1:p.Thr388Ala
XM_005270401.2:c.1078A>G	XP_005270458.1:p.Thr360Ala
XM_006710309.1:c.703A>G	XP_006710372.1:p.Thr235Ala
XM_011540544.1:c.1204A>G	XP_011538846.1:p.Thr402Ala
XM_011540545.1:c.1204A>G	XP_011538847.1:p.Thr402Ala
XM_011540546.1:c.1204A>G	XP_011538848.1:p.Thr402Ala
XR_946529.1:n.1309+111A>G
NM_001319683.1:c.1162A>G	NP_001306612.1:p.Thr388Ala
NR_135089.1:n.1319A>G
XM_005270401.3:c.1078A>G	XP_005270458.1:p.Thr360Ala
XM_006710309.2:c.703A>G	XP_006710372.1:p.Thr235Ala
XM_011540546.2:c.1204A>G	XP_011538848.1:p.Thr402Ala
XM_017000137.1:c.1303A>G	XP_016855626.1:p.Thr435Ala
XM_017000138.1:c.1261A>G	XP_016855627.1:p.Thr421Ala
XM_017000139.1:c.1293+111A>G	XP_016855628.1:n.1293+111A>G
XM_017000140.1:c.1177A>G	XP_016855629.1:p.Thr393Ala
XM_017000141.1:c.1194+111A>G	XP_016855630.1:n.1194+111A>G
XM_017000142.1:c.661A>G	XP_016855631.1:p.Thr221Ala
XM_017000143.1:c.661A>G	XP_016855632.1:p.Thr221Ala
XM_017000144.1:c.433A>G	XP_016855633.1:p.Thr145Ala
XR_002959248.1:n.1677+111A>G
XR_002959249.1:n.1309+111A>G
NM_053274.3:c.1204A>G MANE Select	NP_444504.1:p.Thr402Ala
NM_001319683.2:c.1162A>G	NP_001306612.1:p.Thr388Ala
NR_135089.2:n.1297A>G