Canonical Allele Identifier: CA275539

Gene: GRN

Linked Data

• ClinVar Variation Id: 203460
• ClinVar RCV Id: RCV000185615 ; RCV000513518 ; RCV000503399 ; RCV003765160
• dbSNP Id: rs63749817
• ExAC: 17:42428169 G / A
• gnomAD v2: 17-42428169-G-A
• gnomAD v3: 17-44350801-G-A
• gnomAD v4: 17-44350801-G-A
• MyVariant Identifiers: chr17:g.42428169G>A (hg19) ; chr17:g.44350801G>A (hg38)
• PubMed: PMID:23463024

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44350801G>A , CM000679.2:g.44350801G>A	GRCh38
NC_000017.10:g.42428169G>A , CM000679.1:g.42428169G>A	GRCh37
NC_000017.9:g.39783695G>A	NCBI36
NG_007886.1:g.10679G>A , LRG_661:g.10679G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.708+1G>A MANE Select	ENSP00000053867.2:n.708+1G>A
ENST00000639447.1:c.708+1G>A	ENSP00000492014.1:n.708+1G>A
ENST00000053867.7:c.708+1G>A	ENSP00000053867.2:n.708+1G>A
ENST00000586443.1:c.149+1G>A
ENST00000586782.5:c.*118+1G>A	ENSP00000468318.1:n.*118+1G>A
ENST00000588237.5:c.510+1G>A	ENSP00000466611.1:n.510+1G>A
ENST00000589265.5:c.462+461G>A	ENSP00000467616.1:n.462+461G>A
ENST00000589923.1:n.29+1G>A
ENST00000590984.1:n.298+1G>A
NM_002087.3:c.708+1G>A	NP_002078.1:n.708+1G>A
XM_005257253.1:c.708+1G>A	XP_005257310.1:n.708+1G>A
XM_024450730.1:c.708+1G>A	XP_024306498.1:n.708+1G>A
NM_002087.4:c.708+1G>A MANE Select	NP_002078.1:n.708+1G>A