Canonical Allele Identifier: CA399769200

Gene: GRN

Linked Data

• MyVariant Identifiers: chr17:g.42429565G>T (hg19) ; chr17:g.44352197G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44352197G>T , CM000679.2:g.44352197G>T	GRCh38
NC_000017.10:g.42429565G>T , CM000679.1:g.42429565G>T	GRCh37
NC_000017.9:g.39785091G>T	NCBI36
NG_007886.1:g.12075G>T , LRG_661:g.12075G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1362G>T MANE Select	ENSP00000053867.2:p.Gln454His
ENST00000639447.1:c.1137-332G>T	ENSP00000492014.1:n.1137-332G>T
ENST00000053867.7:c.1362G>T	ENSP00000053867.2:p.Gln454His
ENST00000586443.1:c.803G>T
ENST00000589265.5:c.891G>T	ENSP00000467616.1:p.Gln297His
NM_002087.3:c.1362G>T	NP_002078.1:p.Gln454His
XM_005257253.1:c.1362G>T	XP_005257310.1:p.Gln454His
XM_024450730.1:c.1362G>T	XP_024306498.1:p.Gln454His
NM_002087.4:c.1362G>T MANE Select	NP_002078.1:p.Gln454His