Canonical Allele Identifier: CA2638210125
Gene: GRN HGNC NCBI

Linked Data

gnomAD v4: 17-44351968-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44351968C>A , CM000679.2:g.44351968C>A GRCh38
NC_000017.10:g.42429336C>A , CM000679.1:g.42429336C>A GRCh37
NC_000017.9:g.39784862C>A NCBI36
NG_007886.1:g.11846C>A , LRG_661:g.11846C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1180-47C>A MANE Select ENSP00000053867.2:n.1180-47C>A
ENST00000639447.1:c.1136+216C>A ENSP00000492014.1:n.1136+216C>A
ENST00000053867.7:c.1180-47C>A ENSP00000053867.2:n.1180-47C>A
ENST00000586443.1:c.621-47C>A
ENST00000589265.5:c.709-47C>A ENSP00000467616.1:n.709-47C>A
NM_002087.3:c.1180-47C>A NP_002078.1:n.1180-47C>A
XM_005257253.1:c.1180-47C>A XP_005257310.1:n.1180-47C>A
XM_024450730.1:c.1180-47C>A XP_024306498.1:n.1180-47C>A
NM_002087.4:c.1180-47C>A MANE Select NP_002078.1:n.1180-47C>A
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