Canonical Allele Identifier: CA341094355
Community Standard Title: NM_053274.3(GLMN):c.1630G>T (p.Glu544Ter)
Gene: GLMN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92247100C>A , CM000663.2:g.92247100C>A GRCh38
NC_000001.10:g.92712657C>A , CM000663.1:g.92712657C>A GRCh37
NC_000001.9:g.92485245C>A NCBI36
NG_009796.1:g.56910G>T

Transcript Alleles

HGVS Amino-acid Change
NM_053274.3:c.1630G>T MANE Select NP_444504.1:p.Glu544Ter
ENST00000370360.8:c.1630G>T MANE Select ENSP00000359385.3:p.Glu544Ter
NM_001319683.1:c.1588G>T NP_001306612.1:p.Glu530Ter
NM_001319683.2:c.1588G>T NP_001306612.1:p.Glu530Ter
NM_053274.2:c.1630G>T NP_444504.1:p.Glu544Ter
NR_135089.1:n.1660G>T
NR_135089.2:n.1638G>T
ENST00000370360.7:c.1630G>T ENSP00000359385.3:p.Glu544Ter
ENST00000471465.1:n.576G>T
ENST00000495106.5:c.*291G>T ENSP00000436829.1:n.*291G>T
ENST00000495852.6:c.853G>T ENSP00000469157.2:p.Glu285Ter
XM_005270400.1:c.1588G>T XP_005270457.1:p.Glu530Ter
XM_005270401.2:c.1504G>T XP_005270458.1:p.Glu502Ter
XM_005270401.3:c.1504G>T XP_005270458.1:p.Glu502Ter
XM_006710309.1:c.1129G>T XP_006710372.1:p.Glu377Ter
XM_006710309.2:c.1129G>T XP_006710372.1:p.Glu377Ter
XM_011540544.1:c.1630G>T XP_011538846.1:p.Glu544Ter
XM_011540545.1:c.1630G>T XP_011538847.1:p.Glu544Ter
XM_011540546.1:c.1630G>T XP_011538848.1:p.Glu544Ter
XM_011540546.2:c.1630G>T XP_011538848.1:p.Glu544Ter
XM_017000137.1:c.1729G>T XP_016855626.1:p.Glu577Ter
XM_017000138.1:c.1687G>T XP_016855627.1:p.Glu563Ter
XM_017000139.1:c.1624G>T XP_016855628.1:p.Glu542Ter
XM_017000140.1:c.1603G>T XP_016855629.1:p.Glu535Ter
XM_017000141.1:c.1525G>T XP_016855630.1:p.Glu509Ter
XM_017000142.1:c.1087G>T XP_016855631.1:p.Glu363Ter
XM_017000143.1:c.1087G>T XP_016855632.1:p.Glu363Ter
XM_017000144.1:c.859G>T XP_016855633.1:p.Glu287Ter
XR_002959248.1:n.2093G>T
XR_002959249.1:n.1725G>T