Canonical Allele Identifier: CA399768853
Gene: GRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44352145C>T , CM000679.2:g.44352145C>T GRCh38
NC_000017.10:g.42429513C>T , CM000679.1:g.42429513C>T GRCh37
NC_000017.9:g.39785039C>T NCBI36
NG_007886.1:g.12023C>T , LRG_661:g.12023C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1310C>T MANE Select ENSP00000053867.2:p.Ser437Phe
ENST00000639447.1:c.1137-384C>T ENSP00000492014.1:n.1137-384C>T
ENST00000053867.7:c.1310C>T ENSP00000053867.2:p.Ser437Phe
ENST00000586443.1:c.751C>T
ENST00000589265.5:c.839C>T ENSP00000467616.1:p.Ser280Phe
NM_002087.3:c.1310C>T NP_002078.1:p.Ser437Phe
XM_005257253.1:c.1310C>T XP_005257310.1:p.Ser437Phe
XM_024450730.1:c.1310C>T XP_024306498.1:p.Ser437Phe
NM_002087.4:c.1310C>T MANE Select NP_002078.1:p.Ser437Phe