Canonical Allele Identifier: CA8602158
Gene: GRN HGNC NCBI

Linked Data

ClinVar Variation Id: 1371767
ClinVar RCV Id: RCV001879151
dbSNP Id: rs199934385
ExAC: 17:42429464 G / A
gnomAD v2: 17-42429464-G-A
gnomAD v3: 17-44352096-G-A
gnomAD v4: 17-44352096-G-A
MyVariant Identifiers: chr17:g.42429464G>A (hg19) chr17:g.44352096G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44352096G>A , CM000679.2:g.44352096G>A GRCh38
NC_000017.10:g.42429464G>A , CM000679.1:g.42429464G>A GRCh37
NC_000017.9:g.39784990G>A NCBI36
NG_007886.1:g.11974G>A , LRG_661:g.11974G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1261G>A MANE Select ENSP00000053867.2:p.Glu421Lys
ENST00000639447.1:c.1136+344G>A ENSP00000492014.1:n.1136+344G>A
ENST00000053867.7:c.1261G>A ENSP00000053867.2:p.Glu421Lys
ENST00000586443.1:c.702G>A
ENST00000589265.5:c.790G>A ENSP00000467616.1:p.Glu264Lys
NM_002087.3:c.1261G>A NP_002078.1:p.Glu421Lys
XM_005257253.1:c.1261G>A XP_005257310.1:p.Glu421Lys
XM_024450730.1:c.1261G>A XP_024306498.1:p.Glu421Lys
NM_002087.4:c.1261G>A MANE Select NP_002078.1:p.Glu421Lys
Search 100 bp 5'
Search 100 bp 3'