Canonical Allele Identifier: CA399765345

Gene: GRN

Linked Data

• ClinVar Variation Id: 2279608
• ClinVar RCV Id: RCV002835489
• MyVariant Identifiers: chr17:g.42429007G>T (hg19) ; chr17:g.44351639G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351639G>T , CM000679.2:g.44351639G>T	GRCh38
NC_000017.10:g.42429007G>T , CM000679.1:g.42429007G>T	GRCh37
NC_000017.9:g.39784533G>T	NCBI36
NG_007886.1:g.11517G>T , LRG_661:g.11517G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1023G>T MANE Select	ENSP00000053867.2:p.Gln341His
ENST00000639447.1:c.1023G>T	ENSP00000492014.1:p.Gln341His
ENST00000053867.7:c.1023G>T	ENSP00000053867.2:p.Gln341His
ENST00000586443.1:c.464G>T
ENST00000589265.5:c.552G>T	ENSP00000467616.1:p.Gln184His
ENST00000589923.1:n.281G>T
NM_002087.3:c.1023G>T	NP_002078.1:p.Gln341His
XM_005257253.1:c.1023G>T	XP_005257310.1:p.Gln341His
XM_024450730.1:c.1023G>T	XP_024306498.1:p.Gln341His
NM_002087.4:c.1023G>T MANE Select	NP_002078.1:p.Gln341His