Canonical Allele Identifier: CA399765707

Gene: GRN

Linked Data

• dbSNP Id: rs2048376041
• gnomAD v4: 17-44351689-A-G
• MyVariant Identifiers: chr17:g.42429057A>G (hg19) ; chr17:g.44351689A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351689A>G , CM000679.2:g.44351689A>G	GRCh38
NC_000017.10:g.42429057A>G , CM000679.1:g.42429057A>G	GRCh37
NC_000017.9:g.39784583A>G	NCBI36
NG_007886.1:g.11567A>G , LRG_661:g.11567A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1073A>G MANE Select	ENSP00000053867.2:p.Gln358Arg
ENST00000639447.1:c.1073A>G	ENSP00000492014.1:p.Gln358Arg
ENST00000053867.7:c.1073A>G	ENSP00000053867.2:p.Gln358Arg
ENST00000586443.1:c.514A>G
ENST00000589265.5:c.602A>G	ENSP00000467616.1:p.Gln201Arg
ENST00000589923.1:n.331A>G
NM_002087.3:c.1073A>G	NP_002078.1:p.Gln358Arg
XM_005257253.1:c.1073A>G	XP_005257310.1:p.Gln358Arg
XM_024450730.1:c.1073A>G	XP_024306498.1:p.Gln358Arg
NM_002087.4:c.1073A>G MANE Select	NP_002078.1:p.Gln358Arg