Canonical Allele Identifier: CA275530
Gene: GRN HGNC NCBI

Linked Data

ClinVar Variation Id: 203455
ClinVar RCV Id: RCV000185610
dbSNP Id: rs794729669

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44350341G>C , CM000679.2:g.44350341G>C GRCh38
NC_000017.10:g.42427709G>C , CM000679.1:g.42427709G>C GRCh37
NC_000017.9:g.39783235G>C NCBI36
NG_007886.1:g.10219G>C , LRG_661:g.10219G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.462+1G>C MANE Select ENSP00000053867.2:n.462+1G>C
ENST00000639447.1:c.462+1G>C ENSP00000492014.1:n.462+1G>C
ENST00000053867.7:c.462+1G>C ENSP00000053867.2:n.462+1G>C
ENST00000586782.5:c.462+1G>C ENSP00000468318.1:n.462+1G>C
ENST00000587387.5:c.504+1G>C ENSP00000467431.1:n.504+1G>C
ENST00000588143.5:c.462+1G>C ENSP00000465375.1:n.462+1G>C
ENST00000588237.5:c.265-101G>C ENSP00000466611.1:n.265-101G>C
ENST00000589265.5:c.462+1G>C ENSP00000467616.1:n.462+1G>C
ENST00000590984.1:n.52+1G>C
NM_002087.3:c.462+1G>C NP_002078.1:n.462+1G>C
XM_005257253.1:c.462+1G>C XP_005257310.1:n.462+1G>C
XM_024450730.1:c.462+1G>C XP_024306498.1:n.462+1G>C
NM_002087.4:c.462+1G>C MANE Select NP_002078.1:n.462+1G>C