Canonical Allele Identifier: CA399768422
Gene: GRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44352065T>G , CM000679.2:g.44352065T>G GRCh38
NC_000017.10:g.42429433T>G , CM000679.1:g.42429433T>G GRCh37
NC_000017.9:g.39784959T>G NCBI36
NG_007886.1:g.11943T>G , LRG_661:g.11943T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1230T>G MANE Select ENSP00000053867.2:p.Cys410Trp
ENST00000639447.1:c.1136+313T>G ENSP00000492014.1:n.1136+313T>G
ENST00000053867.7:c.1230T>G ENSP00000053867.2:p.Cys410Trp
ENST00000586443.1:c.671T>G
ENST00000589265.5:c.759T>G ENSP00000467616.1:p.Cys253Trp
NM_002087.3:c.1230T>G NP_002078.1:p.Cys410Trp
XM_005257253.1:c.1230T>G XP_005257310.1:p.Cys410Trp
XM_024450730.1:c.1230T>G XP_024306498.1:p.Cys410Trp
NM_002087.4:c.1230T>G MANE Select NP_002078.1:p.Cys410Trp