Canonical Allele Identifier: CA399765446

Gene: GRN

Linked Data

• dbSNP Id: rs2048375610
• gnomAD v4: 17-44351656-A-G
• MyVariant Identifiers: chr17:g.42429024A>G (hg19) ; chr17:g.44351656A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351656A>G , CM000679.2:g.44351656A>G	GRCh38
NC_000017.10:g.42429024A>G , CM000679.1:g.42429024A>G	GRCh37
NC_000017.9:g.39784550A>G	NCBI36
NG_007886.1:g.11534A>G , LRG_661:g.11534A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1040A>G MANE Select	ENSP00000053867.2:p.Lys347Arg
ENST00000639447.1:c.1040A>G	ENSP00000492014.1:p.Lys347Arg
ENST00000053867.7:c.1040A>G	ENSP00000053867.2:p.Lys347Arg
ENST00000586443.1:c.481A>G
ENST00000589265.5:c.569A>G	ENSP00000467616.1:p.Lys190Arg
ENST00000589923.1:n.298A>G
NM_002087.3:c.1040A>G	NP_002078.1:p.Lys347Arg
XM_005257253.1:c.1040A>G	XP_005257310.1:p.Lys347Arg
XM_024450730.1:c.1040A>G	XP_024306498.1:p.Lys347Arg
NM_002087.4:c.1040A>G MANE Select	NP_002078.1:p.Lys347Arg