Canonical Allele Identifier: CA399768550
Gene: GRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44352086G>C , CM000679.2:g.44352086G>C GRCh38
NC_000017.10:g.42429454G>C , CM000679.1:g.42429454G>C GRCh37
NC_000017.9:g.39784980G>C NCBI36
NG_007886.1:g.11964G>C , LRG_661:g.11964G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1251G>C MANE Select ENSP00000053867.2:p.Gln417His
ENST00000639447.1:c.1136+334G>C ENSP00000492014.1:n.1136+334G>C
ENST00000053867.7:c.1251G>C ENSP00000053867.2:p.Gln417His
ENST00000586443.1:c.692G>C
ENST00000589265.5:c.780G>C ENSP00000467616.1:p.Gln260His
NM_002087.3:c.1251G>C NP_002078.1:p.Gln417His
XM_005257253.1:c.1251G>C XP_005257310.1:p.Gln417His
XM_024450730.1:c.1251G>C XP_024306498.1:p.Gln417His
NM_002087.4:c.1251G>C MANE Select NP_002078.1:p.Gln417His