Canonical Allele Identifier: CA950324

Gene: GLMN

Linked Data

• dbSNP Id: rs376808180
• ExAC: 1:92731953 A / C
• gnomAD v2: 1-92731953-A-C
• gnomAD v3: 1-92266396-A-C
• gnomAD v4: 1-92266396-A-C
• MyVariant Identifiers: chr1:g.92731953A>C (hg19) ; chr1:g.92266396A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92266396A>C , CM000663.2:g.92266396A>C	GRCh38
NC_000001.10:g.92731953A>C , CM000663.1:g.92731953A>C	GRCh37
NC_000001.9:g.92504541A>C	NCBI36
NG_009796.1:g.37614T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370360.8:c.1214+23T>G MANE Select	ENSP00000359385.3:n.1214+23T>G
ENST00000370360.7:c.1214+23T>G	ENSP00000359385.3:n.1214+23T>G
ENST00000463560.1:c.562+144T>G
ENST00000495106.5:c.1214+23T>G	ENSP00000436829.1:n.1214+23T>G
ENST00000495852.6:c.437+23T>G	ENSP00000469157.2:n.437+23T>G
NM_053274.2:c.1214+23T>G	NP_444504.1:n.1214+23T>G
XM_005270400.1:c.1172+23T>G	XP_005270457.1:n.1172+23T>G
XM_005270401.2:c.1088+23T>G	XP_005270458.1:n.1088+23T>G
XM_006710309.1:c.713+23T>G	XP_006710372.1:n.713+23T>G
XM_011540544.1:c.1214+23T>G	XP_011538846.1:n.1214+23T>G
XM_011540545.1:c.1214+23T>G	XP_011538847.1:n.1214+23T>G
XM_011540546.1:c.1214+23T>G	XP_011538848.1:n.1214+23T>G
XR_946529.1:n.1309+144T>G
NM_001319683.1:c.1172+23T>G	NP_001306612.1:n.1172+23T>G
NR_135089.1:n.1329+23T>G
XM_005270401.3:c.1088+23T>G	XP_005270458.1:n.1088+23T>G
XM_006710309.2:c.713+23T>G	XP_006710372.1:n.713+23T>G
XM_011540546.2:c.1214+23T>G	XP_011538848.1:n.1214+23T>G
XM_017000137.1:c.1313+23T>G	XP_016855626.1:n.1313+23T>G
XM_017000138.1:c.1271+23T>G	XP_016855627.1:n.1271+23T>G
XM_017000139.1:c.1293+144T>G	XP_016855628.1:n.1293+144T>G
XM_017000140.1:c.1187+23T>G	XP_016855629.1:n.1187+23T>G
XM_017000141.1:c.1194+144T>G	XP_016855630.1:n.1194+144T>G
XM_017000142.1:c.671+23T>G	XP_016855631.1:n.671+23T>G
XM_017000143.1:c.671+23T>G	XP_016855632.1:n.671+23T>G
XM_017000144.1:c.443+23T>G	XP_016855633.1:n.443+23T>G
XR_002959248.1:n.1677+144T>G
XR_002959249.1:n.1309+144T>G
NM_053274.3:c.1214+23T>G MANE Select	NP_444504.1:n.1214+23T>G
NM_001319683.2:c.1172+23T>G	NP_001306612.1:n.1172+23T>G
NR_135089.2:n.1307+23T>G