Canonical Allele Identifier: CA500622008

Gene: GRN

Linked Data

• ClinVar Variation Id: 2016998
• ClinVar RCV Id: RCV002851858
• dbSNP Id: rs762492926
• gnomAD v4: 17-44351636-C-T
• MyVariant Identifiers: chr17:g.42429004C>T (hg19) ; chr17:g.44351636C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351636C>T , CM000679.2:g.44351636C>T	GRCh38
NC_000017.10:g.42429004C>T , CM000679.1:g.42429004C>T	GRCh37
NC_000017.9:g.39784530C>T	NCBI36
NG_007886.1:g.11514C>T , LRG_661:g.11514C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1020C>T MANE Select	ENSP00000053867.2:p.His340=
ENST00000639447.1:c.1020C>T	ENSP00000492014.1:p.His340=
ENST00000053867.7:c.1020C>T	ENSP00000053867.2:p.His340=
ENST00000586443.1:c.461C>T
ENST00000589265.5:c.549C>T	ENSP00000467616.1:p.His183=
ENST00000589923.1:n.278C>T
NM_002087.3:c.1020C>T	NP_002078.1:p.His340=
XM_005257253.1:c.1020C>T	XP_005257310.1:p.His340=
XM_024450730.1:c.1020C>T	XP_024306498.1:p.His340=
NM_002087.4:c.1020C>T MANE Select	NP_002078.1:p.His340=