Canonical Allele Identifier: CA950488

Gene: GLMN

Linked Data

• ClinVar Variation Id: 298139
• ClinVar RCV Id: RCV000396513
• dbSNP Id: rs149618929
• ExAC: 1:92737180 G / A
• gnomAD v2: 1-92737180-G-A
• gnomAD v3: 1-92271623-G-A
• gnomAD v4: 1-92271623-G-A
• COSMIC: COSM328065
• MyVariant Identifiers: chr1:g.92737180G>A (hg19) ; chr1:g.92271623G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92271623G>A , CM000663.2:g.92271623G>A	GRCh38
NC_000001.10:g.92737180G>A , CM000663.1:g.92737180G>A	GRCh37
NC_000001.9:g.92509768G>A	NCBI36
NG_009796.1:g.32387C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370360.8:c.765C>T MANE Select	ENSP00000359385.3:p.Phe255=
ENST00000370360.7:c.765C>T	ENSP00000359385.3:p.Phe255=
ENST00000463560.1:c.133C>T
ENST00000495106.5:c.765C>T	ENSP00000436829.1:p.Phe255=
ENST00000495852.6:c.30C>T	ENSP00000469157.2:p.Phe10=
NM_053274.2:c.765C>T	NP_444504.1:p.Phe255=
XM_005270400.1:c.765C>T	XP_005270457.1:p.Phe255=
XM_005270401.2:c.639C>T	XP_005270458.1:p.Phe213=
XM_006710309.1:c.264C>T	XP_006710372.1:p.Phe88=
XM_011540544.1:c.765C>T	XP_011538846.1:p.Phe255=
XM_011540545.1:c.765C>T	XP_011538847.1:p.Phe255=
XM_011540546.1:c.765C>T	XP_011538848.1:p.Phe255=
XR_946529.1:n.880C>T
NM_001319683.1:c.765C>T	NP_001306612.1:p.Phe255=
NR_135089.1:n.880C>T
XM_005270401.3:c.639C>T	XP_005270458.1:p.Phe213=
XM_006710309.2:c.264C>T	XP_006710372.1:p.Phe88=
XM_011540546.2:c.765C>T	XP_011538848.1:p.Phe255=
XM_017000137.1:c.864C>T	XP_016855626.1:p.Phe288=
XM_017000138.1:c.864C>T	XP_016855627.1:p.Phe288=
XM_017000139.1:c.864C>T	XP_016855628.1:p.Phe288=
XM_017000140.1:c.738C>T	XP_016855629.1:p.Phe246=
XM_017000141.1:c.765C>T	XP_016855630.1:p.Phe255=
XM_017000142.1:c.264C>T	XP_016855631.1:p.Phe88=
XM_017000143.1:c.264C>T	XP_016855632.1:p.Phe88=
XM_017000144.1:c.-7C>T	XP_016855633.1:n.-7C>T
XR_002959248.1:n.1248C>T
XR_002959249.1:n.880C>T
NM_053274.3:c.765C>T MANE Select	NP_444504.1:p.Phe255=
NM_001319683.2:c.765C>T	NP_001306612.1:p.Phe255=
NR_135089.2:n.858C>T