Canonical Allele Identifier: CA983971342
Gene: GRN HGNC NCBI

Linked Data

dbSNP Id: rs796444381
gnomAD v3: 17-44351864-C-T
gnomAD v4: 17-44351864-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44351864C>T , CM000679.2:g.44351864C>T GRCh38
NC_000017.10:g.42429232C>T , CM000679.1:g.42429232C>T GRCh37
NC_000017.9:g.39784758C>T NCBI36
NG_007886.1:g.11742C>T , LRG_661:g.11742C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1179+69C>T MANE Select ENSP00000053867.2:n.1179+69C>T
ENST00000639447.1:c.1136+112C>T ENSP00000492014.1:n.1136+112C>T
ENST00000053867.7:c.1179+69C>T ENSP00000053867.2:n.1179+69C>T
ENST00000586443.1:c.620+69C>T
ENST00000589265.5:c.708+69C>T ENSP00000467616.1:n.708+69C>T
NM_002087.3:c.1179+69C>T NP_002078.1:n.1179+69C>T
XM_005257253.1:c.1179+69C>T XP_005257310.1:n.1179+69C>T
XM_024450730.1:c.1179+69C>T XP_024306498.1:n.1179+69C>T
NM_002087.4:c.1179+69C>T MANE Select NP_002078.1:n.1179+69C>T
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