Canonical Allele Identifier: CA399769407
Gene: GRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44352235G>T , CM000679.2:g.44352235G>T GRCh38
NC_000017.10:g.42429603G>T , CM000679.1:g.42429603G>T GRCh37
NC_000017.9:g.39785129G>T NCBI36
NG_007886.1:g.12113G>T , LRG_661:g.12113G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1400G>T MANE Select ENSP00000053867.2:p.Cys467Phe
ENST00000639447.1:c.1137-294G>T ENSP00000492014.1:n.1137-294G>T
ENST00000053867.7:c.1400G>T ENSP00000053867.2:p.Cys467Phe
ENST00000586242.1:c.34G>T
ENST00000586443.1:c.841G>T
ENST00000589265.5:c.929G>T ENSP00000467616.1:p.Cys310Phe
NM_002087.3:c.1400G>T NP_002078.1:p.Cys467Phe
XM_005257253.1:c.1400G>T XP_005257310.1:p.Cys467Phe
XM_024450730.1:c.1400G>T XP_024306498.1:p.Cys467Phe
NM_002087.4:c.1400G>T MANE Select NP_002078.1:p.Cys467Phe