Canonical Allele Identifier: CA10425310
Gene: FGD1 HGNC NCBI

Linked Data

dbSNP Id: rs760870145
gnomAD v2: X-54521711-A-G
gnomAD v4: X-54495278-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54495278A>G , CM000685.2:g.54495278A>G GRCh38
NC_000023.10:g.54521711A>G , CM000685.1:g.54521711A>G GRCh37
NC_000023.9:g.54538436A>G NCBI36
NG_008054.1:g.5889T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.155T>C MANE Select ENSP00000364277.3:p.Leu52Pro
ENST00000375135.3:c.155T>C ENSP00000364277.3:p.Leu52Pro
NM_004463.2:c.155T>C NP_004454.2:p.Leu52Pro
NM_004463.3:c.155T>C MANE Select NP_004454.2:p.Leu52Pro