Canonical Allele Identifier: CA950332

Gene: GLMN

Linked Data

• dbSNP Id: rs778723224
• ExAC: 1:92732005 C / G
• gnomAD v2: 1-92732005-C-G
• gnomAD v3: 1-92266448-C-G
• gnomAD v4: 1-92266448-C-G
• MyVariant Identifiers: chr1:g.92732005C>G (hg19) ; chr1:g.92266448C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92266448C>G , CM000663.2:g.92266448C>G	GRCh38
NC_000001.10:g.92732005C>G , CM000663.1:g.92732005C>G	GRCh37
NC_000001.9:g.92504593C>G	NCBI36
NG_009796.1:g.37562G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370360.8:c.1185G>C MANE Select	ENSP00000359385.3:p.Leu395Phe
ENST00000370360.7:c.1185G>C	ENSP00000359385.3:p.Leu395Phe
ENST00000463560.1:c.562+92G>C
ENST00000495106.5:c.1185G>C	ENSP00000436829.1:p.Leu395Phe
ENST00000495852.6:c.408G>C	ENSP00000469157.2:p.Leu136Phe
NM_053274.2:c.1185G>C	NP_444504.1:p.Leu395Phe
XM_005270400.1:c.1143G>C	XP_005270457.1:p.Leu381Phe
XM_005270401.2:c.1059G>C	XP_005270458.1:p.Leu353Phe
XM_006710309.1:c.684G>C	XP_006710372.1:p.Leu228Phe
XM_011540544.1:c.1185G>C	XP_011538846.1:p.Leu395Phe
XM_011540545.1:c.1185G>C	XP_011538847.1:p.Leu395Phe
XM_011540546.1:c.1185G>C	XP_011538848.1:p.Leu395Phe
XR_946529.1:n.1309+92G>C
NM_001319683.1:c.1143G>C	NP_001306612.1:p.Leu381Phe
NR_135089.1:n.1300G>C
XM_005270401.3:c.1059G>C	XP_005270458.1:p.Leu353Phe
XM_006710309.2:c.684G>C	XP_006710372.1:p.Leu228Phe
XM_011540546.2:c.1185G>C	XP_011538848.1:p.Leu395Phe
XM_017000137.1:c.1284G>C	XP_016855626.1:p.Leu428Phe
XM_017000138.1:c.1242G>C	XP_016855627.1:p.Leu414Phe
XM_017000139.1:c.1293+92G>C	XP_016855628.1:n.1293+92G>C
XM_017000140.1:c.1158G>C	XP_016855629.1:p.Leu386Phe
XM_017000141.1:c.1194+92G>C	XP_016855630.1:n.1194+92G>C
XM_017000142.1:c.642G>C	XP_016855631.1:p.Leu214Phe
XM_017000143.1:c.642G>C	XP_016855632.1:p.Leu214Phe
XM_017000144.1:c.414G>C	XP_016855633.1:p.Leu138Phe
XR_002959248.1:n.1677+92G>C
XR_002959249.1:n.1309+92G>C
NM_053274.3:c.1185G>C MANE Select	NP_444504.1:p.Leu395Phe
NM_001319683.2:c.1143G>C	NP_001306612.1:p.Leu381Phe
NR_135089.2:n.1278G>C