Canonical Allele Identifier: CA8602122

Gene: GRN

Linked Data

• dbSNP Id: rs750189710
• ExAC: 17:42429340 A / C
• gnomAD v2: 17-42429340-A-C
• gnomAD v3: 17-44351972-A-C
• gnomAD v4: 17-44351972-A-C
• MyVariant Identifiers: chr17:g.42429340A>C (hg19) ; chr17:g.44351972A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351972A>C , CM000679.2:g.44351972A>C	GRCh38
NC_000017.10:g.42429340A>C , CM000679.1:g.42429340A>C	GRCh37
NC_000017.9:g.39784866A>C	NCBI36
NG_007886.1:g.11850A>C , LRG_661:g.11850A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1180-43A>C MANE Select	ENSP00000053867.2:n.1180-43A>C
ENST00000639447.1:c.1136+220A>C	ENSP00000492014.1:n.1136+220A>C
ENST00000053867.7:c.1180-43A>C	ENSP00000053867.2:n.1180-43A>C
ENST00000586443.1:c.621-43A>C
ENST00000589265.5:c.709-43A>C	ENSP00000467616.1:n.709-43A>C
NM_002087.3:c.1180-43A>C	NP_002078.1:n.1180-43A>C
XM_005257253.1:c.1180-43A>C	XP_005257310.1:n.1180-43A>C
XM_024450730.1:c.1180-43A>C	XP_024306498.1:n.1180-43A>C
NM_002087.4:c.1180-43A>C MANE Select	NP_002078.1:n.1180-43A>C