Canonical Allele Identifier: CA399765289

Gene: GRN

Linked Data

• ClinVar Variation Id: 2941844
• ClinVar RCV Id: RCV003802866
• MyVariant Identifiers: chr17:g.42428995G>C (hg19) ; chr17:g.44351627G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44351627G>C , CM000679.2:g.44351627G>C	GRCh38
NC_000017.10:g.42428995G>C , CM000679.1:g.42428995G>C	GRCh37
NC_000017.9:g.39784521G>C	NCBI36
NG_007886.1:g.11505G>C , LRG_661:g.11505G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000053867.8:c.1011G>C MANE Select	ENSP00000053867.2:p.Gln337His
ENST00000639447.1:c.1011G>C	ENSP00000492014.1:p.Gln337His
ENST00000053867.7:c.1011G>C	ENSP00000053867.2:p.Gln337His
ENST00000586443.1:c.452G>C
ENST00000589265.5:c.540G>C	ENSP00000467616.1:p.Gln180His
ENST00000589923.1:n.269G>C
NM_002087.3:c.1011G>C	NP_002078.1:p.Gln337His
XM_005257253.1:c.1011G>C	XP_005257310.1:p.Gln337His
XM_024450730.1:c.1011G>C	XP_024306498.1:p.Gln337His
NM_002087.4:c.1011G>C MANE Select	NP_002078.1:p.Gln337His