Canonical Allele Identifier: CA413254822
Gene: FGD1 HGNC NCBI

Linked Data

gnomAD v4: X-54495279-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54495279G>T , CM000685.2:g.54495279G>T GRCh38
NC_000023.10:g.54521712G>T , CM000685.1:g.54521712G>T GRCh37
NC_000023.9:g.54538437G>T NCBI36
NG_008054.1:g.5888C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.154C>A MANE Select ENSP00000364277.3:p.Leu52Ile
ENST00000375135.3:c.154C>A ENSP00000364277.3:p.Leu52Ile
NM_004463.2:c.154C>A NP_004454.2:p.Leu52Ile
NM_004463.3:c.154C>A MANE Select NP_004454.2:p.Leu52Ile