Canonical Allele Identifier: CA341099573
Gene: GLMN HGNC NCBI

Linked Data

gnomAD v4: 1-92266432-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92266432A>G , CM000663.2:g.92266432A>G GRCh38
NC_000001.10:g.92731989A>G , CM000663.1:g.92731989A>G GRCh37
NC_000001.9:g.92504577A>G NCBI36
NG_009796.1:g.37578T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370360.8:c.1201T>C MANE Select ENSP00000359385.3:p.Tyr401His
ENST00000370360.7:c.1201T>C ENSP00000359385.3:p.Tyr401His
ENST00000463560.1:c.562+108T>C
ENST00000495106.5:c.1201T>C ENSP00000436829.1:p.Tyr401His
ENST00000495852.6:c.424T>C ENSP00000469157.2:p.Tyr142His
NM_053274.2:c.1201T>C NP_444504.1:p.Tyr401His
XM_005270400.1:c.1159T>C XP_005270457.1:p.Tyr387His
XM_005270401.2:c.1075T>C XP_005270458.1:p.Tyr359His
XM_006710309.1:c.700T>C XP_006710372.1:p.Tyr234His
XM_011540544.1:c.1201T>C XP_011538846.1:p.Tyr401His
XM_011540545.1:c.1201T>C XP_011538847.1:p.Tyr401His
XM_011540546.1:c.1201T>C XP_011538848.1:p.Tyr401His
XR_946529.1:n.1309+108T>C
NM_001319683.1:c.1159T>C NP_001306612.1:p.Tyr387His
NR_135089.1:n.1316T>C
XM_005270401.3:c.1075T>C XP_005270458.1:p.Tyr359His
XM_006710309.2:c.700T>C XP_006710372.1:p.Tyr234His
XM_011540546.2:c.1201T>C XP_011538848.1:p.Tyr401His
XM_017000137.1:c.1300T>C XP_016855626.1:p.Tyr434His
XM_017000138.1:c.1258T>C XP_016855627.1:p.Tyr420His
XM_017000139.1:c.1293+108T>C XP_016855628.1:n.1293+108T>C
XM_017000140.1:c.1174T>C XP_016855629.1:p.Tyr392His
XM_017000141.1:c.1194+108T>C XP_016855630.1:n.1194+108T>C
XM_017000142.1:c.658T>C XP_016855631.1:p.Tyr220His
XM_017000143.1:c.658T>C XP_016855632.1:p.Tyr220His
XM_017000144.1:c.430T>C XP_016855633.1:p.Tyr144His
XR_002959248.1:n.1677+108T>C
XR_002959249.1:n.1309+108T>C
NM_053274.3:c.1201T>C MANE Select NP_444504.1:p.Tyr401His
NM_001319683.2:c.1159T>C NP_001306612.1:p.Tyr387His
NR_135089.2:n.1294T>C