Canonical Allele Identifier: CA8602119
Gene: GRN HGNC NCBI

Linked Data

dbSNP Id: rs751652608
ExAC: 17:42429207 C / A
gnomAD v2: 17-42429207-C-A
gnomAD v4: 17-44351839-C-A
MyVariant Identifiers: chr17:g.42429207C>A (hg19) chr17:g.44351839C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44351839C>A , CM000679.2:g.44351839C>A GRCh38
NC_000017.10:g.42429207C>A , CM000679.1:g.42429207C>A GRCh37
NC_000017.9:g.39784733C>A NCBI36
NG_007886.1:g.11717C>A , LRG_661:g.11717C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1179+44C>A MANE Select ENSP00000053867.2:n.1179+44C>A
ENST00000639447.1:c.1136+87C>A ENSP00000492014.1:n.1136+87C>A
ENST00000053867.7:c.1179+44C>A ENSP00000053867.2:n.1179+44C>A
ENST00000586443.1:c.620+44C>A
ENST00000589265.5:c.708+44C>A ENSP00000467616.1:n.708+44C>A
NM_002087.3:c.1179+44C>A NP_002078.1:n.1179+44C>A
XM_005257253.1:c.1179+44C>A XP_005257310.1:n.1179+44C>A
XM_024450730.1:c.1179+44C>A XP_024306498.1:n.1179+44C>A
NM_002087.4:c.1179+44C>A MANE Select NP_002078.1:n.1179+44C>A
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