Canonical Allele Identifier: CA399764129
Community Standard Title: NM_002087.4(GRN):c.614C>A (p.Ser205Ter)
Gene: GRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44350706C>A , CM000679.2:g.44350706C>A GRCh38
NC_000017.10:g.42428074C>A , CM000679.1:g.42428074C>A GRCh37
NC_000017.9:g.39783600C>A NCBI36
NG_007886.1:g.10584C>A , LRG_661:g.10584C>A

Transcript Alleles

HGVS Amino-acid Change
NM_002087.4:c.614C>A MANE Select NP_002078.1:p.Ser205Ter
ENST00000053867.8:c.614C>A MANE Select ENSP00000053867.2:p.Ser205Ter
NM_002087.3:c.614C>A NP_002078.1:p.Ser205Ter
ENST00000053867.7:c.614C>A ENSP00000053867.2:p.Ser205Ter
ENST00000586443.1:c.55C>A
ENST00000586782.5:c.*24C>A ENSP00000468318.1:n.*24C>A
ENST00000588237.5:c.416C>A ENSP00000466611.1:p.Ser139Ter
ENST00000589265.5:c.462+366C>A ENSP00000467616.1:n.462+366C>A
ENST00000590984.1:n.204C>A
ENST00000639447.1:c.614C>A ENSP00000492014.1:p.Ser205Ter
XM_005257253.1:c.614C>A XP_005257310.1:p.Ser205Ter
XM_024450730.1:c.614C>A XP_024306498.1:p.Ser205Ter