Canonical Allele Identifier: CA225297

Gene: GRN

Linked Data

• ClinVar Variation Id: 98163
• ClinVar RCV Id: RCV000084466 ; RCV000697778
• dbSNP Id: rs63750707
• gnomAD v4: 17-44351461-G-A
• MyVariant Identifiers: chr17:g.42428829G>A (hg19) ; chr17:g.44351461G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351461G>A , CM000679.2:g.44351461G>A	GRCh38
NC_000017.10:g.42428829G>A , CM000679.1:g.42428829G>A	GRCh37
NC_000017.9:g.39784355G>A	NCBI36
NG_007886.1:g.11339G>A , LRG_661:g.11339G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.933+1G>A MANE Select	ENSP00000053867.2:n.933+1G>A
ENST00000639447.1:c.933+1G>A	ENSP00000492014.1:n.933+1G>A
ENST00000053867.7:c.933+1G>A	ENSP00000053867.2:n.933+1G>A
ENST00000585348.1:n.550+1G>A
ENST00000586443.1:c.374+1G>A
ENST00000589265.5:c.463-89G>A	ENSP00000467616.1:n.463-89G>A
ENST00000589923.1:n.191+1G>A
NM_002087.3:c.933+1G>A	NP_002078.1:n.933+1G>A
XM_005257253.1:c.933+1G>A	XP_005257310.1:n.933+1G>A
XM_024450730.1:c.933+1G>A	XP_024306498.1:n.933+1G>A
NM_002087.4:c.933+1G>A MANE Select	NP_002078.1:n.933+1G>A