Canonical Allele Identifier: CA399765435

Gene: GRN

Linked Data

• dbSNP Id: rs2143341112
• gnomAD v4: 17-44351655-A-G
• COSMIC: COSM6452207
• MyVariant Identifiers: chr17:g.42429023A>G (hg19) ; chr17:g.44351655A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351655A>G , CM000679.2:g.44351655A>G	GRCh38
NC_000017.10:g.42429023A>G , CM000679.1:g.42429023A>G	GRCh37
NC_000017.9:g.39784549A>G	NCBI36
NG_007886.1:g.11533A>G , LRG_661:g.11533A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1039A>G MANE Select	ENSP00000053867.2:p.Lys347Glu
ENST00000639447.1:c.1039A>G	ENSP00000492014.1:p.Lys347Glu
ENST00000053867.7:c.1039A>G	ENSP00000053867.2:p.Lys347Glu
ENST00000586443.1:c.480A>G
ENST00000589265.5:c.568A>G	ENSP00000467616.1:p.Lys190Glu
ENST00000589923.1:n.297A>G
NM_002087.3:c.1039A>G	NP_002078.1:p.Lys347Glu
XM_005257253.1:c.1039A>G	XP_005257310.1:p.Lys347Glu
XM_024450730.1:c.1039A>G	XP_024306498.1:p.Lys347Glu
NM_002087.4:c.1039A>G MANE Select	NP_002078.1:p.Lys347Glu