Canonical Allele Identifier: CA16617196
Gene: GLMN HGNC NCBI

Linked Data

ClinVar Variation Id: 420033
ClinVar RCV Id: RCV000481546
dbSNP Id: rs1064794247

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92266425A>C , CM000663.2:g.92266425A>C GRCh38
NC_000001.10:g.92731982A>C , CM000663.1:g.92731982A>C GRCh37
NC_000001.9:g.92504570A>C NCBI36
NG_009796.1:g.37585T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370360.8:c.1208T>G MANE Select ENSP00000359385.3:p.Leu403Ter
ENST00000370360.7:c.1208T>G ENSP00000359385.3:p.Leu403Ter
ENST00000463560.1:c.562+115T>G
ENST00000495106.5:c.1208T>G ENSP00000436829.1:p.Leu403Ter
ENST00000495852.6:c.431T>G ENSP00000469157.2:p.Leu144Ter
NM_053274.2:c.1208T>G NP_444504.1:p.Leu403Ter
XM_005270400.1:c.1166T>G XP_005270457.1:p.Leu389Ter
XM_005270401.2:c.1082T>G XP_005270458.1:p.Leu361Ter
XM_006710309.1:c.707T>G XP_006710372.1:p.Leu236Ter
XM_011540544.1:c.1208T>G XP_011538846.1:p.Leu403Ter
XM_011540545.1:c.1208T>G XP_011538847.1:p.Leu403Ter
XM_011540546.1:c.1208T>G XP_011538848.1:p.Leu403Ter
XR_946529.1:n.1309+115T>G
NM_001319683.1:c.1166T>G NP_001306612.1:p.Leu389Ter
NR_135089.1:n.1323T>G
XM_005270401.3:c.1082T>G XP_005270458.1:p.Leu361Ter
XM_006710309.2:c.707T>G XP_006710372.1:p.Leu236Ter
XM_011540546.2:c.1208T>G XP_011538848.1:p.Leu403Ter
XM_017000137.1:c.1307T>G XP_016855626.1:p.Leu436Ter
XM_017000138.1:c.1265T>G XP_016855627.1:p.Leu422Ter
XM_017000139.1:c.1293+115T>G XP_016855628.1:n.1293+115T>G
XM_017000140.1:c.1181T>G XP_016855629.1:p.Leu394Ter
XM_017000141.1:c.1194+115T>G XP_016855630.1:n.1194+115T>G
XM_017000142.1:c.665T>G XP_016855631.1:p.Leu222Ter
XM_017000143.1:c.665T>G XP_016855632.1:p.Leu222Ter
XM_017000144.1:c.437T>G XP_016855633.1:p.Leu146Ter
XR_002959248.1:n.1677+115T>G
XR_002959249.1:n.1309+115T>G
NM_053274.3:c.1208T>G MANE Select NP_444504.1:p.Leu403Ter
NM_001319683.2:c.1166T>G NP_001306612.1:p.Leu389Ter
NR_135089.2:n.1301T>G