Canonical Allele Identifier: CA418785846
Gene: GLMN HGNC NCBI

Linked Data

gnomAD v4: 1-92266424-T-C
MyVariant Identifiers: chr1:g.92731981T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92266424T>C , CM000663.2:g.92266424T>C GRCh38
NC_000001.10:g.92731981T>C , CM000663.1:g.92731981T>C GRCh37
NC_000001.9:g.92504569T>C NCBI36
NG_009796.1:g.37586A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370360.8:c.1209A>G MANE Select ENSP00000359385.3:p.Leu403=
ENST00000370360.7:c.1209A>G ENSP00000359385.3:p.Leu403=
ENST00000463560.1:c.562+116A>G
ENST00000495106.5:c.1209A>G ENSP00000436829.1:p.Leu403=
ENST00000495852.6:c.432A>G ENSP00000469157.2:p.Leu144=
NM_053274.2:c.1209A>G NP_444504.1:p.Leu403=
XM_005270400.1:c.1167A>G XP_005270457.1:p.Leu389=
XM_005270401.2:c.1083A>G XP_005270458.1:p.Leu361=
XM_006710309.1:c.708A>G XP_006710372.1:p.Leu236=
XM_011540544.1:c.1209A>G XP_011538846.1:p.Leu403=
XM_011540545.1:c.1209A>G XP_011538847.1:p.Leu403=
XM_011540546.1:c.1209A>G XP_011538848.1:p.Leu403=
XR_946529.1:n.1309+116A>G
NM_001319683.1:c.1167A>G NP_001306612.1:p.Leu389=
NR_135089.1:n.1324A>G
XM_005270401.3:c.1083A>G XP_005270458.1:p.Leu361=
XM_006710309.2:c.708A>G XP_006710372.1:p.Leu236=
XM_011540546.2:c.1209A>G XP_011538848.1:p.Leu403=
XM_017000137.1:c.1308A>G XP_016855626.1:p.Leu436=
XM_017000138.1:c.1266A>G XP_016855627.1:p.Leu422=
XM_017000139.1:c.1293+116A>G XP_016855628.1:n.1293+116A>G
XM_017000140.1:c.1182A>G XP_016855629.1:p.Leu394=
XM_017000141.1:c.1194+116A>G XP_016855630.1:n.1194+116A>G
XM_017000142.1:c.666A>G XP_016855631.1:p.Leu222=
XM_017000143.1:c.666A>G XP_016855632.1:p.Leu222=
XM_017000144.1:c.438A>G XP_016855633.1:p.Leu146=
XR_002959248.1:n.1677+116A>G
XR_002959249.1:n.1309+116A>G
NM_053274.3:c.1209A>G MANE Select NP_444504.1:p.Leu403=
NM_001319683.2:c.1167A>G NP_001306612.1:p.Leu389=
NR_135089.2:n.1302A>G