Canonical Allele Identifier: CA399765293

Gene: GRN

Linked Data

• dbSNP Id: rs2048375281
• gnomAD v4: 17-44351628-G-A
• MyVariant Identifiers: chr17:g.42428996G>A (hg19) ; chr17:g.44351628G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351628G>A , CM000679.2:g.44351628G>A	GRCh38
NC_000017.10:g.42428996G>A , CM000679.1:g.42428996G>A	GRCh37
NC_000017.9:g.39784522G>A	NCBI36
NG_007886.1:g.11506G>A , LRG_661:g.11506G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1012G>A MANE Select	ENSP00000053867.2:p.Gly338Arg
ENST00000639447.1:c.1012G>A	ENSP00000492014.1:p.Gly338Arg
ENST00000053867.7:c.1012G>A	ENSP00000053867.2:p.Gly338Arg
ENST00000586443.1:c.453G>A
ENST00000589265.5:c.541G>A	ENSP00000467616.1:p.Gly181Arg
ENST00000589923.1:n.270G>A
NM_002087.3:c.1012G>A	NP_002078.1:p.Gly338Arg
XM_005257253.1:c.1012G>A	XP_005257310.1:p.Gly338Arg
XM_024450730.1:c.1012G>A	XP_024306498.1:p.Gly338Arg
NM_002087.4:c.1012G>A MANE Select	NP_002078.1:p.Gly338Arg