Canonical Allele Identifier: CA516574654
Gene: FGD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3067587
ClinVar RCV Id: RCV003993276
gnomAD v4: X-54495157-A-C
MyVariant Identifiers: chrX:g.54521590A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54495157A>C , CM000685.2:g.54495157A>C GRCh38
NC_000023.10:g.54521590A>C , CM000685.1:g.54521590A>C GRCh37
NC_000023.9:g.54538315A>C NCBI36
NG_008054.1:g.6010T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.276T>G MANE Select ENSP00000364277.3:p.Ser92=
ENST00000375135.3:c.276T>G ENSP00000364277.3:p.Ser92=
NM_004463.2:c.276T>G NP_004454.2:p.Ser92=
NM_004463.3:c.276T>G MANE Select NP_004454.2:p.Ser92=