Canonical Allele Identifier: CA413254408
Gene: FGD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54495138G>A , CM000685.2:g.54495138G>A GRCh38
NC_000023.10:g.54521571G>A , CM000685.1:g.54521571G>A GRCh37
NC_000023.9:g.54538296G>A NCBI36
NG_008054.1:g.6029C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.295C>T MANE Select ENSP00000364277.3:p.Gln99Ter
ENST00000375135.3:c.295C>T ENSP00000364277.3:p.Gln99Ter
NM_004463.2:c.295C>T NP_004454.2:p.Gln99Ter
NM_004463.3:c.295C>T MANE Select NP_004454.2:p.Gln99Ter