Canonical Allele Identifier: CA500622047
Gene: GRN HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.42429034T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44351666T>C , CM000679.2:g.44351666T>C GRCh38
NC_000017.10:g.42429034T>C , CM000679.1:g.42429034T>C GRCh37
NC_000017.9:g.39784560T>C NCBI36
NG_007886.1:g.11544T>C , LRG_661:g.11544T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1050T>C MANE Select ENSP00000053867.2:p.Ala350=
ENST00000639447.1:c.1050T>C ENSP00000492014.1:p.Ala350=
ENST00000053867.7:c.1050T>C ENSP00000053867.2:p.Ala350=
ENST00000586443.1:c.491T>C
ENST00000589265.5:c.579T>C ENSP00000467616.1:p.Ala193=
ENST00000589923.1:n.308T>C
NM_002087.3:c.1050T>C NP_002078.1:p.Ala350=
XM_005257253.1:c.1050T>C XP_005257310.1:p.Ala350=
XM_024450730.1:c.1050T>C XP_024306498.1:p.Ala350=
NM_002087.4:c.1050T>C MANE Select NP_002078.1:p.Ala350=