Canonical Allele Identifier: CA341099673
Gene: GLMN HGNC NCBI

Linked Data

gnomAD v4: 1-92266454-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92266454G>T , CM000663.2:g.92266454G>T GRCh38
NC_000001.10:g.92732011G>T , CM000663.1:g.92732011G>T GRCh37
NC_000001.9:g.92504599G>T NCBI36
NG_009796.1:g.37556C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370360.8:c.1179C>A MANE Select ENSP00000359385.3:p.Asn393Lys
ENST00000370360.7:c.1179C>A ENSP00000359385.3:p.Asn393Lys
ENST00000463560.1:c.562+86C>A
ENST00000495106.5:c.1179C>A ENSP00000436829.1:p.Asn393Lys
ENST00000495852.6:c.402C>A ENSP00000469157.2:p.Asn134Lys
NM_053274.2:c.1179C>A NP_444504.1:p.Asn393Lys
XM_005270400.1:c.1137C>A XP_005270457.1:p.Asn379Lys
XM_005270401.2:c.1053C>A XP_005270458.1:p.Asn351Lys
XM_006710309.1:c.678C>A XP_006710372.1:p.Asn226Lys
XM_011540544.1:c.1179C>A XP_011538846.1:p.Asn393Lys
XM_011540545.1:c.1179C>A XP_011538847.1:p.Asn393Lys
XM_011540546.1:c.1179C>A XP_011538848.1:p.Asn393Lys
XR_946529.1:n.1309+86C>A
NM_001319683.1:c.1137C>A NP_001306612.1:p.Asn379Lys
NR_135089.1:n.1294C>A
XM_005270401.3:c.1053C>A XP_005270458.1:p.Asn351Lys
XM_006710309.2:c.678C>A XP_006710372.1:p.Asn226Lys
XM_011540546.2:c.1179C>A XP_011538848.1:p.Asn393Lys
XM_017000137.1:c.1278C>A XP_016855626.1:p.Asn426Lys
XM_017000138.1:c.1236C>A XP_016855627.1:p.Asn412Lys
XM_017000139.1:c.1293+86C>A XP_016855628.1:n.1293+86C>A
XM_017000140.1:c.1152C>A XP_016855629.1:p.Asn384Lys
XM_017000141.1:c.1194+86C>A XP_016855630.1:n.1194+86C>A
XM_017000142.1:c.636C>A XP_016855631.1:p.Asn212Lys
XM_017000143.1:c.636C>A XP_016855632.1:p.Asn212Lys
XM_017000144.1:c.408C>A XP_016855633.1:p.Asn136Lys
XR_002959248.1:n.1677+86C>A
XR_002959249.1:n.1309+86C>A
NM_053274.3:c.1179C>A MANE Select NP_444504.1:p.Asn393Lys
NM_001319683.2:c.1137C>A NP_001306612.1:p.Asn379Lys
NR_135089.2:n.1272C>A