Canonical Allele Identifier: CA516574631
Gene: FGD1 HGNC NCBI

Linked Data

gnomAD v4: X-54495127-A-G
MyVariant Identifiers: chrX:g.54521560A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54495127A>G , CM000685.2:g.54495127A>G GRCh38
NC_000023.10:g.54521560A>G , CM000685.1:g.54521560A>G GRCh37
NC_000023.9:g.54538285A>G NCBI36
NG_008054.1:g.6040T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.306T>C MANE Select ENSP00000364277.3:p.Pro102=
ENST00000375135.3:c.306T>C ENSP00000364277.3:p.Pro102=
NM_004463.2:c.306T>C NP_004454.2:p.Pro102=
NM_004463.3:c.306T>C MANE Select NP_004454.2:p.Pro102=