Canonical Allele Identifier: CA225301
Gene: GRN HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.44351586G>A
GRCh37 chr17:g.42428954G>A
Revel Score:
ENST00000053867 (MANE Select) 0.093
ENST00000357351 0.093
ENST00000393566 0.093
gnomAD v2:
17:42428954 G / A
gnomAD v3:
17:44351586 G / A
gnomAD v4:
chr17-44351586-G-A
Joint Max Group AF 0.00152181 (NFE)
Genomes Max Group AF 0.00139051 (AFR)
Exomes Max Group AF 0.00153313 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44351586G>A , CM000679.2:g.44351586G>A GRCh38
NC_000017.10:g.42428954G>A , CM000679.1:g.42428954G>A GRCh37
NC_000017.9:g.39784480G>A NCBI36
NG_007886.1:g.11464G>A , LRG_661:g.11464G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.970G>A MANE Select ENSP00000053867.2:p.Ala324Thr
ENST00000639447.1:c.970G>A ENSP00000492014.1:p.Ala324Thr
ENST00000053867.7:c.970G>A ENSP00000053867.2:p.Ala324Thr
ENST00000585348.1:n.587G>A
ENST00000586443.1:c.411G>A
ENST00000589265.5:c.499G>A ENSP00000467616.1:p.Ala167Thr
ENST00000589923.1:n.228G>A
NM_002087.3:c.970G>A NP_002078.1:p.Ala324Thr
XM_005257253.1:c.970G>A XP_005257310.1:p.Ala324Thr
XM_024450730.1:c.970G>A XP_024306498.1:p.Ala324Thr
NM_002087.4:c.970G>A MANE Select NP_002078.1:p.Ala324Thr
Search 100 bp 5'
Search 100 bp 3'