Canonical Allele Identifier: CA399764550
Gene: GRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44351048C>G , CM000679.2:g.44351048C>G GRCh38
NC_000017.10:g.42428416C>G , CM000679.1:g.42428416C>G GRCh37
NC_000017.9:g.39783942C>G NCBI36
NG_007886.1:g.10926C>G , LRG_661:g.10926C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000053867.8:c.720C>G MANE Select ENSP00000053867.2:p.Cys240Trp
ENST00000639447.1:c.720C>G ENSP00000492014.1:p.Cys240Trp
ENST00000053867.7:c.720C>G ENSP00000053867.2:p.Cys240Trp
ENST00000585348.1:n.138C>G
ENST00000586443.1:c.161C>G
ENST00000586782.5:c.*130C>G ENSP00000468318.1:n.*130C>G
ENST00000589265.5:c.463-502C>G ENSP00000467616.1:n.463-502C>G
ENST00000589923.1:n.41C>G
ENST00000590984.1:n.310C>G
NM_002087.3:c.720C>G NP_002078.1:p.Cys240Trp
XM_005257253.1:c.720C>G XP_005257310.1:p.Cys240Trp
XM_024450730.1:c.720C>G XP_024306498.1:p.Cys240Trp
NM_002087.4:c.720C>G MANE Select NP_002078.1:p.Cys240Trp