Canonical Allele Identifier: CA8602191

Gene: GRN

Linked Data

• dbSNP Id: rs759865303
• ExAC: 17:42429648 G / A
• gnomAD v2: 17-42429648-G-A
• gnomAD v3: 17-44352280-G-A
• gnomAD v4: 17-44352280-G-A
• MyVariant Identifiers: chr17:g.42429648G>A (hg19) ; chr17:g.44352280G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44352280G>A , CM000679.2:g.44352280G>A	GRCh38
NC_000017.10:g.42429648G>A , CM000679.1:g.42429648G>A	GRCh37
NC_000017.9:g.39785174G>A	NCBI36
NG_007886.1:g.12158G>A , LRG_661:g.12158G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1413+32G>A MANE Select	ENSP00000053867.2:n.1413+32G>A
ENST00000639447.1:c.1137-249G>A	ENSP00000492014.1:n.1137-249G>A
ENST00000053867.7:c.1413+32G>A	ENSP00000053867.2:n.1413+32G>A
ENST00000586242.1:c.47+32G>A
ENST00000586443.1:c.854+32G>A
ENST00000589265.5:c.942+32G>A	ENSP00000467616.1:n.942+32G>A
NM_002087.3:c.1413+32G>A	NP_002078.1:n.1413+32G>A
XM_005257253.1:c.1413+32G>A	XP_005257310.1:n.1413+32G>A
XM_024450730.1:c.1413+32G>A	XP_024306498.1:n.1413+32G>A
NM_002087.4:c.1413+32G>A MANE Select	NP_002078.1:n.1413+32G>A