Canonical Allele Identifier: CA516574640
Gene: FGD1 HGNC NCBI

Linked Data

gnomAD v4: X-54495136-C-T
MyVariant Identifiers: chrX:g.54521569C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54495136C>T , CM000685.2:g.54495136C>T GRCh38
NC_000023.10:g.54521569C>T , CM000685.1:g.54521569C>T GRCh37
NC_000023.9:g.54538294C>T NCBI36
NG_008054.1:g.6031G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.297G>A MANE Select ENSP00000364277.3:p.Gln99=
ENST00000375135.3:c.297G>A ENSP00000364277.3:p.Gln99=
NM_004463.2:c.297G>A NP_004454.2:p.Gln99=
NM_004463.3:c.297G>A MANE Select NP_004454.2:p.Gln99=
Search 100 bp 5'
Search 100 bp 3'