Canonical Allele Identifier: CA399769457
Gene: GRN HGNC NCBI

Linked Data

gnomAD v4: 17-44352249-G-A
MyVariant Identifiers: chr17:g.42429617G>A (hg19) chr17:g.44352249G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44352249G>A , CM000679.2:g.44352249G>A GRCh38
NC_000017.10:g.42429617G>A , CM000679.1:g.42429617G>A GRCh37
NC_000017.9:g.39785143G>A NCBI36
NG_007886.1:g.12127G>A , LRG_661:g.12127G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1413+1G>A MANE Select ENSP00000053867.2:n.1413+1G>A
ENST00000639447.1:c.1137-280G>A ENSP00000492014.1:n.1137-280G>A
ENST00000053867.7:c.1413+1G>A ENSP00000053867.2:n.1413+1G>A
ENST00000586242.1:c.47+1G>A
ENST00000586443.1:c.854+1G>A
ENST00000589265.5:c.942+1G>A ENSP00000467616.1:n.942+1G>A
NM_002087.3:c.1413+1G>A NP_002078.1:n.1413+1G>A
XM_005257253.1:c.1413+1G>A XP_005257310.1:n.1413+1G>A
XM_024450730.1:c.1413+1G>A XP_024306498.1:n.1413+1G>A
NM_002087.4:c.1413+1G>A MANE Select NP_002078.1:n.1413+1G>A
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