Canonical Allele Identifier: CA524361537
Gene: GLMN HGNC NCBI

Linked Data

dbSNP Id: rs1418065187
gnomAD v2: 1-92731565-T-G
gnomAD v3: 1-92266008-T-G
gnomAD v4: 1-92266008-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92266008T>G , CM000663.2:g.92266008T>G GRCh38
NC_000001.10:g.92731565T>G , CM000663.1:g.92731565T>G GRCh37
NC_000001.9:g.92504153T>G NCBI36
NG_009796.1:g.38002A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370360.8:c.1214+411A>C MANE Select ENSP00000359385.3:n.1214+411A>C
ENST00000370360.7:c.1214+411A>C ENSP00000359385.3:n.1214+411A>C
ENST00000463560.1:c.562+532A>C
ENST00000495106.5:c.1214+411A>C ENSP00000436829.1:n.1214+411A>C
ENST00000495852.6:c.437+411A>C ENSP00000469157.2:n.437+411A>C
NM_053274.2:c.1214+411A>C NP_444504.1:n.1214+411A>C
XM_005270400.1:c.1172+411A>C XP_005270457.1:n.1172+411A>C
XM_005270401.2:c.1088+411A>C XP_005270458.1:n.1088+411A>C
XM_006710309.1:c.713+411A>C XP_006710372.1:n.713+411A>C
XM_011540544.1:c.1214+411A>C XP_011538846.1:n.1214+411A>C
XM_011540545.1:c.1214+411A>C XP_011538847.1:n.1214+411A>C
XM_011540546.1:c.1214+411A>C XP_011538848.1:n.1214+411A>C
XR_946529.1:n.1309+532A>C
NM_001319683.1:c.1172+411A>C NP_001306612.1:n.1172+411A>C
NR_135089.1:n.1329+411A>C
XM_005270401.3:c.1088+411A>C XP_005270458.1:n.1088+411A>C
XM_006710309.2:c.713+411A>C XP_006710372.1:n.713+411A>C
XM_011540546.2:c.1214+411A>C XP_011538848.1:n.1214+411A>C
XM_017000137.1:c.1313+411A>C XP_016855626.1:n.1313+411A>C
XM_017000138.1:c.1271+411A>C XP_016855627.1:n.1271+411A>C
XM_017000139.1:c.1293+532A>C XP_016855628.1:n.1293+532A>C
XM_017000140.1:c.1187+411A>C XP_016855629.1:n.1187+411A>C
XM_017000141.1:c.1194+532A>C XP_016855630.1:n.1194+532A>C
XM_017000142.1:c.671+411A>C XP_016855631.1:n.671+411A>C
XM_017000143.1:c.671+411A>C XP_016855632.1:n.671+411A>C
XM_017000144.1:c.443+411A>C XP_016855633.1:n.443+411A>C
XR_002959248.1:n.1677+532A>C
XR_002959249.1:n.1309+532A>C
NM_053274.3:c.1214+411A>C MANE Select NP_444504.1:n.1214+411A>C
NM_001319683.2:c.1172+411A>C NP_001306612.1:n.1172+411A>C
NR_135089.2:n.1307+411A>C