Canonical Allele Identifier: CA413245107

Gene: FGD1

Linked Data

• MyVariant Identifiers: chrX:g.54492249T>G (hg19) ; chrX:g.54465816T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54465816T>G , CM000685.2:g.54465816T>G	GRCh38
NC_000023.10:g.54492249T>G , CM000685.1:g.54492249T>G	GRCh37
NC_000023.9:g.54508974T>G	NCBI36
NG_008054.1:g.35351A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375135.4:c.1377A>C MANE Select	ENSP00000364277.3:p.Lys459Asn
ENST00000375135.3:c.1377A>C	ENSP00000364277.3:p.Lys459Asn
NM_004463.2:c.1377A>C	NP_004454.2:p.Lys459Asn
NM_004463.3:c.1377A>C MANE Select	NP_004454.2:p.Lys459Asn