Canonical Allele Identifier: CA341099588
Gene: GLMN HGNC NCBI

Linked Data

dbSNP Id: rs1163666760
gnomAD v2: 1-92731994-C-A
gnomAD v4: 1-92266437-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92266437C>A , CM000663.2:g.92266437C>A GRCh38
NC_000001.10:g.92731994C>A , CM000663.1:g.92731994C>A GRCh37
NC_000001.9:g.92504582C>A NCBI36
NG_009796.1:g.37573G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370360.8:c.1196G>T MANE Select ENSP00000359385.3:p.Gly399Val
ENST00000370360.7:c.1196G>T ENSP00000359385.3:p.Gly399Val
ENST00000463560.1:c.562+103G>T
ENST00000495106.5:c.1196G>T ENSP00000436829.1:p.Gly399Val
ENST00000495852.6:c.419G>T ENSP00000469157.2:p.Gly140Val
NM_053274.2:c.1196G>T NP_444504.1:p.Gly399Val
XM_005270400.1:c.1154G>T XP_005270457.1:p.Gly385Val
XM_005270401.2:c.1070G>T XP_005270458.1:p.Gly357Val
XM_006710309.1:c.695G>T XP_006710372.1:p.Gly232Val
XM_011540544.1:c.1196G>T XP_011538846.1:p.Gly399Val
XM_011540545.1:c.1196G>T XP_011538847.1:p.Gly399Val
XM_011540546.1:c.1196G>T XP_011538848.1:p.Gly399Val
XR_946529.1:n.1309+103G>T
NM_001319683.1:c.1154G>T NP_001306612.1:p.Gly385Val
NR_135089.1:n.1311G>T
XM_005270401.3:c.1070G>T XP_005270458.1:p.Gly357Val
XM_006710309.2:c.695G>T XP_006710372.1:p.Gly232Val
XM_011540546.2:c.1196G>T XP_011538848.1:p.Gly399Val
XM_017000137.1:c.1295G>T XP_016855626.1:p.Gly432Val
XM_017000138.1:c.1253G>T XP_016855627.1:p.Gly418Val
XM_017000139.1:c.1293+103G>T XP_016855628.1:n.1293+103G>T
XM_017000140.1:c.1169G>T XP_016855629.1:p.Gly390Val
XM_017000141.1:c.1194+103G>T XP_016855630.1:n.1194+103G>T
XM_017000142.1:c.653G>T XP_016855631.1:p.Gly218Val
XM_017000143.1:c.653G>T XP_016855632.1:p.Gly218Val
XM_017000144.1:c.425G>T XP_016855633.1:p.Gly142Val
XR_002959248.1:n.1677+103G>T
XR_002959249.1:n.1309+103G>T
NM_053274.3:c.1196G>T MANE Select NP_444504.1:p.Gly399Val
NM_001319683.2:c.1154G>T NP_001306612.1:p.Gly385Val
NR_135089.2:n.1289G>T