Canonical Allele Identifier: CA399769452

Gene: GRN

Linked Data

• MyVariant Identifiers: chr17:g.42429616T>A (hg19) ; chr17:g.44352248T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44352248T>A , CM000679.2:g.44352248T>A	GRCh38
NC_000017.10:g.42429616T>A , CM000679.1:g.42429616T>A	GRCh37
NC_000017.9:g.39785142T>A	NCBI36
NG_007886.1:g.12126T>A , LRG_661:g.12126T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1413T>A MANE Select	ENSP00000053867.2:p.His471Gln
ENST00000639447.1:c.1137-281T>A	ENSP00000492014.1:n.1137-281T>A
ENST00000053867.7:c.1413T>A	ENSP00000053867.2:p.His471Gln
ENST00000586242.1:c.47T>A
ENST00000586443.1:c.854T>A
ENST00000589265.5:c.942T>A	ENSP00000467616.1:p.His314Gln
NM_002087.3:c.1413T>A	NP_002078.1:p.His471Gln
XM_005257253.1:c.1413T>A	XP_005257310.1:p.His471Gln
XM_024450730.1:c.1413T>A	XP_024306498.1:p.His471Gln
NM_002087.4:c.1413T>A MANE Select	NP_002078.1:p.His471Gln