Canonical Allele Identifier: CA8602199

Gene: GRN

Linked Data

• dbSNP Id: rs372404680
• ExAC: 17:42429679 A / G
• gnomAD v2: 17-42429679-A-G
• gnomAD v3: 17-44352311-A-G
• gnomAD v4: 17-44352311-A-G
• MyVariant Identifiers: chr17:g.42429679A>G (hg19) ; chr17:g.44352311A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44352311A>G , CM000679.2:g.44352311A>G	GRCh38
NC_000017.10:g.42429679A>G , CM000679.1:g.42429679A>G	GRCh37
NC_000017.9:g.39785205A>G	NCBI36
NG_007886.1:g.12189A>G , LRG_661:g.12189A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1414-30A>G MANE Select	ENSP00000053867.2:n.1414-30A>G
ENST00000639447.1:c.1137-218A>G	ENSP00000492014.1:n.1137-218A>G
ENST00000053867.7:c.1414-30A>G	ENSP00000053867.2:n.1414-30A>G
ENST00000586242.1:c.48-30A>G
ENST00000586443.1:c.855-30A>G
ENST00000589265.5:c.943-30A>G	ENSP00000467616.1:n.943-30A>G
NM_002087.3:c.1414-30A>G	NP_002078.1:n.1414-30A>G
XM_005257253.1:c.1414-30A>G	XP_005257310.1:n.1414-30A>G
XM_024450730.1:c.1414-30A>G	XP_024306498.1:n.1414-30A>G
NM_002087.4:c.1414-30A>G MANE Select	NP_002078.1:n.1414-30A>G