Canonical Allele Identifier: CA516574643
Gene: FGD1 HGNC NCBI

Linked Data

gnomAD v4: X-54495139-C-T
MyVariant Identifiers: chrX:g.54521572C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54495139C>T , CM000685.2:g.54495139C>T GRCh38
NC_000023.10:g.54521572C>T , CM000685.1:g.54521572C>T GRCh37
NC_000023.9:g.54538297C>T NCBI36
NG_008054.1:g.6028G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.294G>A MANE Select ENSP00000364277.3:p.Ser98=
ENST00000375135.3:c.294G>A ENSP00000364277.3:p.Ser98=
NM_004463.2:c.294G>A NP_004454.2:p.Ser98=
NM_004463.3:c.294G>A MANE Select NP_004454.2:p.Ser98=