Canonical Allele Identifier: CA399766427
Gene: GRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44351764C>A , CM000679.2:g.44351764C>A GRCh38
NC_000017.10:g.42429132C>A , CM000679.1:g.42429132C>A GRCh37
NC_000017.9:g.39784658C>A NCBI36
NG_007886.1:g.11642C>A , LRG_661:g.11642C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1148C>A MANE Select ENSP00000053867.2:p.Ser383Tyr
ENST00000639447.1:c.1136+12C>A ENSP00000492014.1:n.1136+12C>A
ENST00000053867.7:c.1148C>A ENSP00000053867.2:p.Ser383Tyr
ENST00000586443.1:c.589C>A
ENST00000589265.5:c.677C>A ENSP00000467616.1:p.Ser226Tyr
ENST00000589923.1:n.406C>A
NM_002087.3:c.1148C>A NP_002078.1:p.Ser383Tyr
XM_005257253.1:c.1148C>A XP_005257310.1:p.Ser383Tyr
XM_024450730.1:c.1148C>A XP_024306498.1:p.Ser383Tyr
NM_002087.4:c.1148C>A MANE Select NP_002078.1:p.Ser383Tyr