Canonical Allele Identifier: CA290920950
Gene: GRN HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44345347C>A , CM000679.2:g.44345347C>A GRCh38
NC_000017.10:g.42422715C>A , CM000679.1:g.42422715C>A GRCh37
NC_000017.9:g.39778241C>A NCBI36
NG_007886.1:g.5225C>A , LRG_661:g.5225C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.-8+13C>A MANE Select ENSP00000053867.2:n.-8+13C>A
ENST00000053867.7:c.-8+13C>A ENSP00000053867.2:n.-8+13C>A
ENST00000585512.5:c.-406C>A ENSP00000467745.1:n.-406C>A
ENST00000586782.5:c.-8+13C>A ENSP00000468318.1:n.-8+13C>A
ENST00000587109.5:c.-266C>A ENSP00000466271.1:n.-266C>A
ENST00000587387.5:c.-8+13C>A ENSP00000467431.1:n.-8+13C>A
ENST00000587518.5:c.-48+13C>A ENSP00000465518.1:n.-48+13C>A
ENST00000587958.1:n.29+13C>A
ENST00000588143.5:c.-4+13C>A ENSP00000465375.1:n.-4+13C>A
ENST00000588170.5:n.89+13C>A
ENST00000588237.5:c.-8+13C>A ENSP00000466611.1:n.-8+13C>A
ENST00000589265.5:c.-8+13C>A ENSP00000467616.1:n.-8+13C>A
ENST00000589536.5:c.-140+13C>A ENSP00000466956.1:n.-140+13C>A
ENST00000591740.5:c.-148+13C>A ENSP00000467022.1:n.-148+13C>A
ENST00000592323.5:n.33+13C>A
ENST00000592783.5:c.-83+13C>A ENSP00000467870.1:n.-83+13C>A
ENST00000593167.5:c.-280+13C>A ENSP00000466405.1:n.-280+13C>A
NM_002087.3:c.-8+13C>A NP_002078.1:n.-8+13C>A
XM_005257253.1:c.-266C>A XP_005257310.1:n.-266C>A
NM_002087.4:c.-8+13C>A MANE Select NP_002078.1:n.-8+13C>A