Canonical Allele Identifier: CA8602173

Gene: GRN

Linked Data

• dbSNP Id: rs771313711
• ExAC: 17:42429536 G / A
• gnomAD v2: 17-42429536-G-A
• gnomAD v4: 17-44352168-G-A
• MyVariant Identifiers: chr17:g.42429536G>A (hg19) ; chr17:g.44352168G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44352168G>A , CM000679.2:g.44352168G>A	GRCh38
NC_000017.10:g.42429536G>A , CM000679.1:g.42429536G>A	GRCh37
NC_000017.9:g.39785062G>A	NCBI36
NG_007886.1:g.12046G>A , LRG_661:g.12046G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1333G>A MANE Select	ENSP00000053867.2:p.Asp445Asn
ENST00000639447.1:c.1137-361G>A	ENSP00000492014.1:n.1137-361G>A
ENST00000053867.7:c.1333G>A	ENSP00000053867.2:p.Asp445Asn
ENST00000586443.1:c.774G>A
ENST00000589265.5:c.862G>A	ENSP00000467616.1:p.Asp288Asn
NM_002087.3:c.1333G>A	NP_002078.1:p.Asp445Asn
XM_005257253.1:c.1333G>A	XP_005257310.1:p.Asp445Asn
XM_024450730.1:c.1333G>A	XP_024306498.1:p.Asp445Asn
NM_002087.4:c.1333G>A MANE Select	NP_002078.1:p.Asp445Asn