Canonical Allele Identifier: CA950421

Gene: GLMN

Linked Data

• ClinVar Variation Id: 298135
• ClinVar RCV Id: RCV000351035
• dbSNP Id: rs750401776
• ExAC: 1:92733696 A / G
• gnomAD v2: 1-92733696-A-G
• gnomAD v3: 1-92268139-A-G
• gnomAD v4: 1-92268139-A-G
• MyVariant Identifiers: chr1:g.92733696A>G (hg19) ; chr1:g.92268139A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92268139A>G , CM000663.2:g.92268139A>G	GRCh38
NC_000001.10:g.92733696A>G , CM000663.1:g.92733696A>G	GRCh37
NC_000001.9:g.92506284A>G	NCBI36
NG_009796.1:g.35871T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370360.8:c.978-4T>C MANE Select	ENSP00000359385.3:n.978-4T>C
ENST00000370360.7:c.978-4T>C	ENSP00000359385.3:n.978-4T>C
ENST00000463560.1:c.346-4T>C
ENST00000495106.5:c.978-4T>C	ENSP00000436829.1:n.978-4T>C
ENST00000495852.6:c.243-4T>C	ENSP00000469157.2:n.243-4T>C
NM_053274.2:c.978-4T>C	NP_444504.1:n.978-4T>C
XM_005270400.1:c.978-4T>C	XP_005270457.1:n.978-4T>C
XM_005270401.2:c.852-4T>C	XP_005270458.1:n.852-4T>C
XM_006710309.1:c.477-4T>C	XP_006710372.1:n.477-4T>C
XM_011540544.1:c.978-4T>C	XP_011538846.1:n.978-4T>C
XM_011540545.1:c.978-4T>C	XP_011538847.1:n.978-4T>C
XM_011540546.1:c.978-4T>C	XP_011538848.1:n.978-4T>C
XR_946529.1:n.1093-4T>C
NM_001319683.1:c.978-4T>C	NP_001306612.1:n.978-4T>C
NR_135089.1:n.1093-4T>C
XM_005270401.3:c.852-4T>C	XP_005270458.1:n.852-4T>C
XM_006710309.2:c.477-4T>C	XP_006710372.1:n.477-4T>C
XM_011540546.2:c.978-4T>C	XP_011538848.1:n.978-4T>C
XM_017000137.1:c.1077-4T>C	XP_016855626.1:n.1077-4T>C
XM_017000138.1:c.1077-4T>C	XP_016855627.1:n.1077-4T>C
XM_017000139.1:c.1077-4T>C	XP_016855628.1:n.1077-4T>C
XM_017000140.1:c.951-4T>C	XP_016855629.1:n.951-4T>C
XM_017000141.1:c.978-4T>C	XP_016855630.1:n.978-4T>C
XM_017000142.1:c.477-4T>C	XP_016855631.1:n.477-4T>C
XM_017000143.1:c.477-4T>C	XP_016855632.1:n.477-4T>C
XM_017000144.1:c.207-4T>C	XP_016855633.1:n.207-4T>C
XR_002959248.1:n.1461-4T>C
XR_002959249.1:n.1093-4T>C
NM_053274.3:c.978-4T>C MANE Select	NP_444504.1:n.978-4T>C
NM_001319683.2:c.978-4T>C	NP_001306612.1:n.978-4T>C
NR_135089.2:n.1071-4T>C