Canonical Allele Identifier: CA413254440
Gene: FGD1 HGNC NCBI

Linked Data

gnomAD v4: X-54495152-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54495152T>A , CM000685.2:g.54495152T>A GRCh38
NC_000023.10:g.54521585T>A , CM000685.1:g.54521585T>A GRCh37
NC_000023.9:g.54538310T>A NCBI36
NG_008054.1:g.6015A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.281A>T MANE Select ENSP00000364277.3:p.His94Leu
ENST00000375135.3:c.281A>T ENSP00000364277.3:p.His94Leu
NM_004463.2:c.281A>T NP_004454.2:p.His94Leu
NM_004463.3:c.281A>T MANE Select NP_004454.2:p.His94Leu