Canonical Allele Identifier: CA413245364
Gene: FGD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.54492283T>G (hg19) chrX:g.54465850T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54465850T>G , CM000685.2:g.54465850T>G GRCh38
NC_000023.10:g.54492283T>G , CM000685.1:g.54492283T>G GRCh37
NC_000023.9:g.54509008T>G NCBI36
NG_008054.1:g.35317A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.1343A>C MANE Select ENSP00000364277.3:p.Asp448Ala
ENST00000375135.3:c.1343A>C ENSP00000364277.3:p.Asp448Ala
NM_004463.2:c.1343A>C NP_004454.2:p.Asp448Ala
NM_004463.3:c.1343A>C MANE Select NP_004454.2:p.Asp448Ala
Search 100 bp 5'
Search 100 bp 3'