Canonical Allele Identifier: CA399765314
Gene: GRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44351632C>A , CM000679.2:g.44351632C>A GRCh38
NC_000017.10:g.42429000C>A , CM000679.1:g.42429000C>A GRCh37
NC_000017.9:g.39784526C>A NCBI36
NG_007886.1:g.11510C>A , LRG_661:g.11510C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1016C>A MANE Select ENSP00000053867.2:p.Pro339His
ENST00000639447.1:c.1016C>A ENSP00000492014.1:p.Pro339His
ENST00000053867.7:c.1016C>A ENSP00000053867.2:p.Pro339His
ENST00000586443.1:c.457C>A
ENST00000589265.5:c.545C>A ENSP00000467616.1:p.Pro182His
ENST00000589923.1:n.274C>A
NM_002087.3:c.1016C>A NP_002078.1:p.Pro339His
XM_005257253.1:c.1016C>A XP_005257310.1:p.Pro339His
XM_024450730.1:c.1016C>A XP_024306498.1:p.Pro339His
NM_002087.4:c.1016C>A MANE Select NP_002078.1:p.Pro339His