Canonical Allele Identifier: CA2683002

Gene: GFM1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158684582G>A , CM000665.2:g.158684582G>A	GRCh38
NC_000003.11:g.158402371G>A , CM000665.1:g.158402371G>A	GRCh37
NC_000003.10:g.159885065G>A	NCBI36
NG_008441.1:g.45055G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024996.7:c.1823G>A MANE Select	NP_079272.4:p.Arg608Gln
ENST00000486715.6:c.1823G>A MANE Select	ENSP00000419038.1:p.Arg608Gln
NM_001308164.1:c.1880G>A	NP_001295093.1:p.Arg627Gln
NM_001308164.2:c.1880G>A	NP_001295093.1:p.Arg627Gln
NM_001374355.1:c.1742G>A	NP_001361284.1:p.Arg581Gln
NM_001374356.1:c.1706G>A	NP_001361285.1:p.Arg569Gln
NM_001374357.1:c.1598G>A	NP_001361286.1:p.Arg533Gln
NM_001374358.1:c.1364G>A	NP_001361287.1:p.Arg455Gln
NM_001374359.1:c.1256G>A	NP_001361288.1:p.Arg419Gln
NM_001374360.1:c.1256G>A	NP_001361289.1:p.Arg419Gln
NM_001374361.1:c.1139G>A	NP_001361290.1:p.Arg380Gln
NM_024996.5:c.1823G>A	NP_079272.4:p.Arg608Gln
NR_164499.1:n.1846G>A
NR_164500.1:n.1872+2425G>A
NR_164501.1:n.1417+2425G>A
NR_164502.1:n.1810G>A
ENST00000264263.9:c.1880G>A	ENSP00000264263.5:p.Arg627Gln
ENST00000477721.1:n.229G>A
ENST00000478254.5:c.*463G>A	ENSP00000417225.1:n.*463G>A
ENST00000481468.1:n.110G>A
ENST00000486715.5:c.1823G>A	ENSP00000419038.1:p.Arg608Gln
XM_006713795.1:c.1706G>A	XP_006713858.1:p.Arg569Gln
XM_006713795.2:c.1706G>A	XP_006713858.1:p.Arg569Gln