Canonical Allele Identifier: CA399765291
Gene: GRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44351627G>T , CM000679.2:g.44351627G>T GRCh38
NC_000017.10:g.42428995G>T , CM000679.1:g.42428995G>T GRCh37
NC_000017.9:g.39784521G>T NCBI36
NG_007886.1:g.11505G>T , LRG_661:g.11505G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000053867.8:c.1011G>T MANE Select ENSP00000053867.2:p.Gln337His
ENST00000639447.1:c.1011G>T ENSP00000492014.1:p.Gln337His
ENST00000053867.7:c.1011G>T ENSP00000053867.2:p.Gln337His
ENST00000586443.1:c.452G>T
ENST00000589265.5:c.540G>T ENSP00000467616.1:p.Gln180His
ENST00000589923.1:n.269G>T
NM_002087.3:c.1011G>T NP_002078.1:p.Gln337His
XM_005257253.1:c.1011G>T XP_005257310.1:p.Gln337His
XM_024450730.1:c.1011G>T XP_024306498.1:p.Gln337His
NM_002087.4:c.1011G>T MANE Select NP_002078.1:p.Gln337His