Canonical Allele Identifier: CA399766091
Gene: GRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44351732T>G , CM000679.2:g.44351732T>G GRCh38
NC_000017.10:g.42429100T>G , CM000679.1:g.42429100T>G GRCh37
NC_000017.9:g.39784626T>G NCBI36
NG_007886.1:g.11610T>G , LRG_661:g.11610T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1116T>G MANE Select ENSP00000053867.2:p.Cys372Trp
ENST00000639447.1:c.1116T>G ENSP00000492014.1:p.Cys372Trp
ENST00000053867.7:c.1116T>G ENSP00000053867.2:p.Cys372Trp
ENST00000586443.1:c.557T>G
ENST00000589265.5:c.645T>G ENSP00000467616.1:p.Cys215Trp
ENST00000589923.1:n.374T>G
NM_002087.3:c.1116T>G NP_002078.1:p.Cys372Trp
XM_005257253.1:c.1116T>G XP_005257310.1:p.Cys372Trp
XM_024450730.1:c.1116T>G XP_024306498.1:p.Cys372Trp
NM_002087.4:c.1116T>G MANE Select NP_002078.1:p.Cys372Trp