Canonical Allele Identifier: CA399769395
Gene: GRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44352233C>G , CM000679.2:g.44352233C>G GRCh38
NC_000017.10:g.42429601C>G , CM000679.1:g.42429601C>G GRCh37
NC_000017.9:g.39785127C>G NCBI36
NG_007886.1:g.12111C>G , LRG_661:g.12111C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1398C>G MANE Select ENSP00000053867.2:p.Cys466Trp
ENST00000639447.1:c.1137-296C>G ENSP00000492014.1:n.1137-296C>G
ENST00000053867.7:c.1398C>G ENSP00000053867.2:p.Cys466Trp
ENST00000586242.1:c.32C>G
ENST00000586443.1:c.839C>G
ENST00000589265.5:c.927C>G ENSP00000467616.1:p.Cys309Trp
NM_002087.3:c.1398C>G NP_002078.1:p.Cys466Trp
XM_005257253.1:c.1398C>G XP_005257310.1:p.Cys466Trp
XM_024450730.1:c.1398C>G XP_024306498.1:p.Cys466Trp
NM_002087.4:c.1398C>G MANE Select NP_002078.1:p.Cys466Trp