Canonical Allele Identifier: CA1004437727
Gene: GLMN HGNC NCBI

Linked Data

dbSNP Id: rs973271044
gnomAD v3: 1-92266271-C-T
gnomAD v4: 1-92266271-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92266271C>T , CM000663.2:g.92266271C>T GRCh38
NC_000001.10:g.92731828C>T , CM000663.1:g.92731828C>T GRCh37
NC_000001.9:g.92504416C>T NCBI36
NG_009796.1:g.37739G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370360.8:c.1214+148G>A MANE Select ENSP00000359385.3:n.1214+148G>A
ENST00000370360.7:c.1214+148G>A ENSP00000359385.3:n.1214+148G>A
ENST00000463560.1:c.562+269G>A
ENST00000495106.5:c.1214+148G>A ENSP00000436829.1:n.1214+148G>A
ENST00000495852.6:c.437+148G>A ENSP00000469157.2:n.437+148G>A
NM_053274.2:c.1214+148G>A NP_444504.1:n.1214+148G>A
XM_005270400.1:c.1172+148G>A XP_005270457.1:n.1172+148G>A
XM_005270401.2:c.1088+148G>A XP_005270458.1:n.1088+148G>A
XM_006710309.1:c.713+148G>A XP_006710372.1:n.713+148G>A
XM_011540544.1:c.1214+148G>A XP_011538846.1:n.1214+148G>A
XM_011540545.1:c.1214+148G>A XP_011538847.1:n.1214+148G>A
XM_011540546.1:c.1214+148G>A XP_011538848.1:n.1214+148G>A
XR_946529.1:n.1309+269G>A
NM_001319683.1:c.1172+148G>A NP_001306612.1:n.1172+148G>A
NR_135089.1:n.1329+148G>A
XM_005270401.3:c.1088+148G>A XP_005270458.1:n.1088+148G>A
XM_006710309.2:c.713+148G>A XP_006710372.1:n.713+148G>A
XM_011540546.2:c.1214+148G>A XP_011538848.1:n.1214+148G>A
XM_017000137.1:c.1313+148G>A XP_016855626.1:n.1313+148G>A
XM_017000138.1:c.1271+148G>A XP_016855627.1:n.1271+148G>A
XM_017000139.1:c.1293+269G>A XP_016855628.1:n.1293+269G>A
XM_017000140.1:c.1187+148G>A XP_016855629.1:n.1187+148G>A
XM_017000141.1:c.1194+269G>A XP_016855630.1:n.1194+269G>A
XM_017000142.1:c.671+148G>A XP_016855631.1:n.671+148G>A
XM_017000143.1:c.671+148G>A XP_016855632.1:n.671+148G>A
XM_017000144.1:c.443+148G>A XP_016855633.1:n.443+148G>A
XR_002959248.1:n.1677+269G>A
XR_002959249.1:n.1309+269G>A
NM_053274.3:c.1214+148G>A MANE Select NP_444504.1:n.1214+148G>A
NM_001319683.2:c.1172+148G>A NP_001306612.1:n.1172+148G>A
NR_135089.2:n.1307+148G>A