Canonical Allele Identifier: CA341099566

Gene: GLMN

Linked Data

• dbSNP Id: rs1369889881
• gnomAD v2: 1-92731988-T-G
• gnomAD v4: 1-92266431-T-G
• MyVariant Identifiers: chr1:g.92731988T>G (hg19) ; chr1:g.92266431T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92266431T>G , CM000663.2:g.92266431T>G	GRCh38
NC_000001.10:g.92731988T>G , CM000663.1:g.92731988T>G	GRCh37
NC_000001.9:g.92504576T>G	NCBI36
NG_009796.1:g.37579A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370360.8:c.1202A>C MANE Select	ENSP00000359385.3:p.Tyr401Ser
ENST00000370360.7:c.1202A>C	ENSP00000359385.3:p.Tyr401Ser
ENST00000463560.1:c.562+109A>C
ENST00000495106.5:c.1202A>C	ENSP00000436829.1:p.Tyr401Ser
ENST00000495852.6:c.425A>C	ENSP00000469157.2:p.Tyr142Ser
NM_053274.2:c.1202A>C	NP_444504.1:p.Tyr401Ser
XM_005270400.1:c.1160A>C	XP_005270457.1:p.Tyr387Ser
XM_005270401.2:c.1076A>C	XP_005270458.1:p.Tyr359Ser
XM_006710309.1:c.701A>C	XP_006710372.1:p.Tyr234Ser
XM_011540544.1:c.1202A>C	XP_011538846.1:p.Tyr401Ser
XM_011540545.1:c.1202A>C	XP_011538847.1:p.Tyr401Ser
XM_011540546.1:c.1202A>C	XP_011538848.1:p.Tyr401Ser
XR_946529.1:n.1309+109A>C
NM_001319683.1:c.1160A>C	NP_001306612.1:p.Tyr387Ser
NR_135089.1:n.1317A>C
XM_005270401.3:c.1076A>C	XP_005270458.1:p.Tyr359Ser
XM_006710309.2:c.701A>C	XP_006710372.1:p.Tyr234Ser
XM_011540546.2:c.1202A>C	XP_011538848.1:p.Tyr401Ser
XM_017000137.1:c.1301A>C	XP_016855626.1:p.Tyr434Ser
XM_017000138.1:c.1259A>C	XP_016855627.1:p.Tyr420Ser
XM_017000139.1:c.1293+109A>C	XP_016855628.1:n.1293+109A>C
XM_017000140.1:c.1175A>C	XP_016855629.1:p.Tyr392Ser
XM_017000141.1:c.1194+109A>C	XP_016855630.1:n.1194+109A>C
XM_017000142.1:c.659A>C	XP_016855631.1:p.Tyr220Ser
XM_017000143.1:c.659A>C	XP_016855632.1:p.Tyr220Ser
XM_017000144.1:c.431A>C	XP_016855633.1:p.Tyr144Ser
XR_002959248.1:n.1677+109A>C
XR_002959249.1:n.1309+109A>C
NM_053274.3:c.1202A>C MANE Select	NP_444504.1:p.Tyr401Ser
NM_001319683.2:c.1160A>C	NP_001306612.1:p.Tyr387Ser
NR_135089.2:n.1295A>C