Canonical Allele Identifier: CA8602180
Gene: GRN HGNC NCBI

Linked Data

ClinVar Variation Id: 888742
ClinVar RCV Id: RCV001122278 RCV001294896
dbSNP Id: rs751072702
ExAC: 17:42429560 G / A
gnomAD v2: 17-42429560-G-A
gnomAD v3: 17-44352192-G-A
gnomAD v4: 17-44352192-G-A
MyVariant Identifiers: chr17:g.42429560G>A (hg19) chr17:g.44352192G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44352192G>A , CM000679.2:g.44352192G>A GRCh38
NC_000017.10:g.42429560G>A , CM000679.1:g.42429560G>A GRCh37
NC_000017.9:g.39785086G>A NCBI36
NG_007886.1:g.12070G>A , LRG_661:g.12070G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1357G>A MANE Select ENSP00000053867.2:p.Gly453Arg
ENST00000639447.1:c.1137-337G>A ENSP00000492014.1:n.1137-337G>A
ENST00000053867.7:c.1357G>A ENSP00000053867.2:p.Gly453Arg
ENST00000586443.1:c.798G>A
ENST00000589265.5:c.886G>A ENSP00000467616.1:p.Gly296Arg
NM_002087.3:c.1357G>A NP_002078.1:p.Gly453Arg
XM_005257253.1:c.1357G>A XP_005257310.1:p.Gly453Arg
XM_024450730.1:c.1357G>A XP_024306498.1:p.Gly453Arg
NM_002087.4:c.1357G>A MANE Select NP_002078.1:p.Gly453Arg
Search 100 bp 5'
Search 100 bp 3'