Canonical Allele Identifier: CA2576290541
Gene: GRN HGNC NCBI

Linked Data

gnomAD v4: 17-44351875-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44351875A>G , CM000679.2:g.44351875A>G GRCh38
NC_000017.10:g.42429243A>G , CM000679.1:g.42429243A>G GRCh37
NC_000017.9:g.39784769A>G NCBI36
NG_007886.1:g.11753A>G , LRG_661:g.11753A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1179+80A>G MANE Select ENSP00000053867.2:n.1179+80A>G
ENST00000639447.1:c.1136+123A>G ENSP00000492014.1:n.1136+123A>G
ENST00000053867.7:c.1179+80A>G ENSP00000053867.2:n.1179+80A>G
ENST00000586443.1:c.620+80A>G
ENST00000589265.5:c.708+80A>G ENSP00000467616.1:n.708+80A>G
NM_002087.3:c.1179+80A>G NP_002078.1:n.1179+80A>G
XM_005257253.1:c.1179+80A>G XP_005257310.1:n.1179+80A>G
XM_024450730.1:c.1179+80A>G XP_024306498.1:n.1179+80A>G
NM_002087.4:c.1179+80A>G MANE Select NP_002078.1:n.1179+80A>G
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