Canonical Allele Identifier: CA2261354390
Gene: GRN HGNC NCBI

Linked Data

dbSNP Id: rs933549378
gnomAD v4: 17-44351902-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44351902C>A , CM000679.2:g.44351902C>A GRCh38
NC_000017.10:g.42429270C>A , CM000679.1:g.42429270C>A GRCh37
NC_000017.9:g.39784796C>A NCBI36
NG_007886.1:g.11780C>A , LRG_661:g.11780C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1179+107C>A MANE Select ENSP00000053867.2:n.1179+107C>A
ENST00000639447.1:c.1136+150C>A ENSP00000492014.1:n.1136+150C>A
ENST00000053867.7:c.1179+107C>A ENSP00000053867.2:n.1179+107C>A
ENST00000586443.1:c.620+107C>A
ENST00000589265.5:c.708+107C>A ENSP00000467616.1:n.708+107C>A
NM_002087.3:c.1179+107C>A NP_002078.1:n.1179+107C>A
XM_005257253.1:c.1179+107C>A XP_005257310.1:n.1179+107C>A
XM_024450730.1:c.1179+107C>A XP_024306498.1:n.1179+107C>A
NM_002087.4:c.1179+107C>A MANE Select NP_002078.1:n.1179+107C>A
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