Canonical Allele Identifier: CA399766334
Gene: GRN HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.42429122C>A (hg19) chr17:g.44351754C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44351754C>A , CM000679.2:g.44351754C>A GRCh38
NC_000017.10:g.42429122C>A , CM000679.1:g.42429122C>A GRCh37
NC_000017.9:g.39784648C>A NCBI36
NG_007886.1:g.11632C>A , LRG_661:g.11632C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1138C>A MANE Select ENSP00000053867.2:p.Gln380Lys
ENST00000639447.1:c.1136+2C>A ENSP00000492014.1:n.1136+2C>A
ENST00000053867.7:c.1138C>A ENSP00000053867.2:p.Gln380Lys
ENST00000586443.1:c.579C>A
ENST00000589265.5:c.667C>A ENSP00000467616.1:p.Gln223Lys
ENST00000589923.1:n.396C>A
NM_002087.3:c.1138C>A NP_002078.1:p.Gln380Lys
XM_005257253.1:c.1138C>A XP_005257310.1:p.Gln380Lys
XM_024450730.1:c.1138C>A XP_024306498.1:p.Gln380Lys
NM_002087.4:c.1138C>A MANE Select NP_002078.1:p.Gln380Lys
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