Canonical Allele Identifier: CA950330

Gene: GLMN

Linked Data

• dbSNP Id: rs754763633
• ExAC: 1:92732004 C / A
• gnomAD v2: 1-92732004-C-A
• MyVariant Identifiers: chr1:g.92732004C>A (hg19) ; chr1:g.92266447C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92266447C>A , CM000663.2:g.92266447C>A	GRCh38
NC_000001.10:g.92732004C>A , CM000663.1:g.92732004C>A	GRCh37
NC_000001.9:g.92504592C>A	NCBI36
NG_009796.1:g.37563G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370360.8:c.1186G>T MANE Select	ENSP00000359385.3:p.Asp396Tyr
ENST00000370360.7:c.1186G>T	ENSP00000359385.3:p.Asp396Tyr
ENST00000463560.1:c.562+93G>T
ENST00000495106.5:c.1186G>T	ENSP00000436829.1:p.Asp396Tyr
ENST00000495852.6:c.409G>T	ENSP00000469157.2:p.Asp137Tyr
NM_053274.2:c.1186G>T	NP_444504.1:p.Asp396Tyr
XM_005270400.1:c.1144G>T	XP_005270457.1:p.Asp382Tyr
XM_005270401.2:c.1060G>T	XP_005270458.1:p.Asp354Tyr
XM_006710309.1:c.685G>T	XP_006710372.1:p.Asp229Tyr
XM_011540544.1:c.1186G>T	XP_011538846.1:p.Asp396Tyr
XM_011540545.1:c.1186G>T	XP_011538847.1:p.Asp396Tyr
XM_011540546.1:c.1186G>T	XP_011538848.1:p.Asp396Tyr
XR_946529.1:n.1309+93G>T
NM_001319683.1:c.1144G>T	NP_001306612.1:p.Asp382Tyr
NR_135089.1:n.1301G>T
XM_005270401.3:c.1060G>T	XP_005270458.1:p.Asp354Tyr
XM_006710309.2:c.685G>T	XP_006710372.1:p.Asp229Tyr
XM_011540546.2:c.1186G>T	XP_011538848.1:p.Asp396Tyr
XM_017000137.1:c.1285G>T	XP_016855626.1:p.Asp429Tyr
XM_017000138.1:c.1243G>T	XP_016855627.1:p.Asp415Tyr
XM_017000139.1:c.1293+93G>T	XP_016855628.1:n.1293+93G>T
XM_017000140.1:c.1159G>T	XP_016855629.1:p.Asp387Tyr
XM_017000141.1:c.1194+93G>T	XP_016855630.1:n.1194+93G>T
XM_017000142.1:c.643G>T	XP_016855631.1:p.Asp215Tyr
XM_017000143.1:c.643G>T	XP_016855632.1:p.Asp215Tyr
XM_017000144.1:c.415G>T	XP_016855633.1:p.Asp139Tyr
XR_002959248.1:n.1677+93G>T
XR_002959249.1:n.1309+93G>T
NM_053274.3:c.1186G>T MANE Select	NP_444504.1:p.Asp396Tyr
NM_001319683.2:c.1144G>T	NP_001306612.1:p.Asp382Tyr
NR_135089.2:n.1279G>T