Canonical Allele Identifier: CA399768308
Gene: GRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44352051C>A , CM000679.2:g.44352051C>A GRCh38
NC_000017.10:g.42429419C>A , CM000679.1:g.42429419C>A GRCh37
NC_000017.9:g.39784945C>A NCBI36
NG_007886.1:g.11929C>A , LRG_661:g.11929C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1216C>A MANE Select ENSP00000053867.2:p.Gln406Lys
ENST00000639447.1:c.1136+299C>A ENSP00000492014.1:n.1136+299C>A
ENST00000053867.7:c.1216C>A ENSP00000053867.2:p.Gln406Lys
ENST00000586443.1:c.657C>A
ENST00000589265.5:c.745C>A ENSP00000467616.1:p.Gln249Lys
NM_002087.3:c.1216C>A NP_002078.1:p.Gln406Lys
XM_005257253.1:c.1216C>A XP_005257310.1:p.Gln406Lys
XM_024450730.1:c.1216C>A XP_024306498.1:p.Gln406Lys
NM_002087.4:c.1216C>A MANE Select NP_002078.1:p.Gln406Lys