Canonical Allele Identifier: CA500622018

Gene: GRN

Linked Data

• dbSNP Id: rs2048375470
• gnomAD v4: 17-44351642-G-A
• MyVariant Identifiers: chr17:g.42429010G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351642G>A , CM000679.2:g.44351642G>A	GRCh38
NC_000017.10:g.42429010G>A , CM000679.1:g.42429010G>A	GRCh37
NC_000017.9:g.39784536G>A	NCBI36
NG_007886.1:g.11520G>A , LRG_661:g.11520G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1026G>A MANE Select	ENSP00000053867.2:p.Val342=
ENST00000639447.1:c.1026G>A	ENSP00000492014.1:p.Val342=
ENST00000053867.7:c.1026G>A	ENSP00000053867.2:p.Val342=
ENST00000586443.1:c.467G>A
ENST00000589265.5:c.555G>A	ENSP00000467616.1:p.Val185=
ENST00000589923.1:n.284G>A
NM_002087.3:c.1026G>A	NP_002078.1:p.Val342=
XM_005257253.1:c.1026G>A	XP_005257310.1:p.Val342=
XM_024450730.1:c.1026G>A	XP_024306498.1:p.Val342=
NM_002087.4:c.1026G>A MANE Select	NP_002078.1:p.Val342=