Canonical Allele Identifier: CA983971642

Gene: GRN

Linked Data

• dbSNP Id: rs2048384249
• gnomAD v3: 17-44352293-G-C
• gnomAD v4: 17-44352293-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44352293G>C , CM000679.2:g.44352293G>C	GRCh38
NC_000017.10:g.42429661G>C , CM000679.1:g.42429661G>C	GRCh37
NC_000017.9:g.39785187G>C	NCBI36
NG_007886.1:g.12171G>C , LRG_661:g.12171G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1413+45G>C MANE Select	ENSP00000053867.2:n.1413+45G>C
ENST00000639447.1:c.1137-236G>C	ENSP00000492014.1:n.1137-236G>C
ENST00000053867.7:c.1413+45G>C	ENSP00000053867.2:n.1413+45G>C
ENST00000586242.1:c.47+45G>C
ENST00000586443.1:c.854+45G>C
ENST00000589265.5:c.942+45G>C	ENSP00000467616.1:n.942+45G>C
NM_002087.3:c.1413+45G>C	NP_002078.1:n.1413+45G>C
XM_005257253.1:c.1413+45G>C	XP_005257310.1:n.1413+45G>C
XM_024450730.1:c.1413+45G>C	XP_024306498.1:n.1413+45G>C
NM_002087.4:c.1413+45G>C MANE Select	NP_002078.1:n.1413+45G>C