Canonical Allele Identifier: CA225301

Gene: GRN

Linked Data

• ClinVar Variation Id: 98165
• ClinVar RCV Id: RCV000084468 ; RCV000706214 ; RCV001128038 ; RCV001727569 ; RCV004549523 ; RCV002381407
• dbSNP Id: rs63750541
• ExAC: 17:42428954 G / A
• gnomAD v2: 17-42428954-G-A
• gnomAD v3: 17-44351586-G-A
• gnomAD v4: 17-44351586-G-A
• MyVariant Identifiers: chr17:g.42428954G>A (hg19) ; chr17:g.44351586G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351586G>A , CM000679.2:g.44351586G>A	GRCh38
NC_000017.10:g.42428954G>A , CM000679.1:g.42428954G>A	GRCh37
NC_000017.9:g.39784480G>A	NCBI36
NG_007886.1:g.11464G>A , LRG_661:g.11464G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.970G>A MANE Select	ENSP00000053867.2:p.Ala324Thr
ENST00000639447.1:c.970G>A	ENSP00000492014.1:p.Ala324Thr
ENST00000053867.7:c.970G>A	ENSP00000053867.2:p.Ala324Thr
ENST00000585348.1:n.587G>A
ENST00000586443.1:c.411G>A
ENST00000589265.5:c.499G>A	ENSP00000467616.1:p.Ala167Thr
ENST00000589923.1:n.228G>A
NM_002087.3:c.970G>A	NP_002078.1:p.Ala324Thr
XM_005257253.1:c.970G>A	XP_005257310.1:p.Ala324Thr
XM_024450730.1:c.970G>A	XP_024306498.1:p.Ala324Thr
NM_002087.4:c.970G>A MANE Select	NP_002078.1:p.Ala324Thr