Canonical Allele Identifier: CA341099812

Gene: GLMN

Linked Data

• dbSNP Id: rs1655645485
• gnomAD v3: 1-92266484-C-G
• gnomAD v4: 1-92266484-C-G
• MyVariant Identifiers: chr1:g.92732041C>G (hg19) ; chr1:g.92266484C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92266484C>G , CM000663.2:g.92266484C>G	GRCh38
NC_000001.10:g.92732041C>G , CM000663.1:g.92732041C>G	GRCh37
NC_000001.9:g.92504629C>G	NCBI36
NG_009796.1:g.37526G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370360.8:c.1149G>C MANE Select	ENSP00000359385.3:p.Lys383Asn
ENST00000370360.7:c.1149G>C	ENSP00000359385.3:p.Lys383Asn
ENST00000463560.1:c.562+56G>C
ENST00000495106.5:c.1149G>C	ENSP00000436829.1:p.Lys383Asn
ENST00000495852.6:c.372G>C	ENSP00000469157.2:p.Lys124Asn
NM_053274.2:c.1149G>C	NP_444504.1:p.Lys383Asn
XM_005270400.1:c.1107G>C	XP_005270457.1:p.Lys369Asn
XM_005270401.2:c.1023G>C	XP_005270458.1:p.Lys341Asn
XM_006710309.1:c.648G>C	XP_006710372.1:p.Lys216Asn
XM_011540544.1:c.1149G>C	XP_011538846.1:p.Lys383Asn
XM_011540545.1:c.1149G>C	XP_011538847.1:p.Lys383Asn
XM_011540546.1:c.1149G>C	XP_011538848.1:p.Lys383Asn
XR_946529.1:n.1309+56G>C
NM_001319683.1:c.1107G>C	NP_001306612.1:p.Lys369Asn
NR_135089.1:n.1264G>C
XM_005270401.3:c.1023G>C	XP_005270458.1:p.Lys341Asn
XM_006710309.2:c.648G>C	XP_006710372.1:p.Lys216Asn
XM_011540546.2:c.1149G>C	XP_011538848.1:p.Lys383Asn
XM_017000137.1:c.1248G>C	XP_016855626.1:p.Lys416Asn
XM_017000138.1:c.1206G>C	XP_016855627.1:p.Lys402Asn
XM_017000139.1:c.1293+56G>C	XP_016855628.1:n.1293+56G>C
XM_017000140.1:c.1122G>C	XP_016855629.1:p.Lys374Asn
XM_017000141.1:c.1194+56G>C	XP_016855630.1:n.1194+56G>C
XM_017000142.1:c.606G>C	XP_016855631.1:p.Lys202Asn
XM_017000143.1:c.606G>C	XP_016855632.1:p.Lys202Asn
XM_017000144.1:c.378G>C	XP_016855633.1:p.Lys126Asn
XR_002959248.1:n.1677+56G>C
XR_002959249.1:n.1309+56G>C
NM_053274.3:c.1149G>C MANE Select	NP_444504.1:p.Lys383Asn
NM_001319683.2:c.1107G>C	NP_001306612.1:p.Lys369Asn
NR_135089.2:n.1242G>C