Canonical Allele Identifier: CA516574739
Gene: FGD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.54521701T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54495268T>A , CM000685.2:g.54495268T>A GRCh38
NC_000023.10:g.54521701T>A , CM000685.1:g.54521701T>A GRCh37
NC_000023.9:g.54538426T>A NCBI36
NG_008054.1:g.5899A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000375135.4:c.165A>T MANE Select ENSP00000364277.3:p.Pro55=
ENST00000375135.3:c.165A>T ENSP00000364277.3:p.Pro55=
NM_004463.2:c.165A>T NP_004454.2:p.Pro55=
NM_004463.3:c.165A>T MANE Select NP_004454.2:p.Pro55=