Canonical Allele Identifier: CA355182812

Gene: GFM1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158690324G>A , CM000665.2:g.158690324G>A	GRCh38
NC_000003.11:g.158408113G>A , CM000665.1:g.158408113G>A	GRCh37
NC_000003.10:g.159890807G>A	NCBI36
NG_008441.1:g.50797G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024996.7:c.2070+1G>A MANE Select	NP_079272.4:n.2070+1G>A
ENST00000486715.6:c.2070+1G>A MANE Select	ENSP00000419038.1:n.2070+1G>A
NM_001308164.1:c.2127+1G>A	NP_001295093.1:n.2127+1G>A
NM_001308164.2:c.2127+1G>A	NP_001295093.1:n.2127+1G>A
NM_001374355.1:c.1989+1G>A	NP_001361284.1:n.1989+1G>A
NM_001374356.1:c.1953+1G>A	NP_001361285.1:n.1953+1G>A
NM_001374357.1:c.1845+1G>A	NP_001361286.1:n.1845+1G>A
NM_001374358.1:c.1611+1G>A	NP_001361287.1:n.1611+1G>A
NM_001374359.1:c.1503+1G>A	NP_001361288.1:n.1503+1G>A
NM_001374360.1:c.1503+1G>A	NP_001361289.1:n.1503+1G>A
NM_001374361.1:c.1386+1G>A	NP_001361290.1:n.1386+1G>A
NM_024996.5:c.2070+1G>A	NP_079272.4:n.2070+1G>A
NR_164499.1:n.2093+1G>A
NR_164500.1:n.2033+1G>A
NR_164501.1:n.1578+1G>A
NR_164502.1:n.2057+1G>A
ENST00000264263.9:c.2127+1G>A	ENSP00000264263.5:n.2127+1G>A
ENST00000472383.1:c.39-815G>A
ENST00000477721.1:n.477G>A
ENST00000478254.5:c.*710+1G>A	ENSP00000417225.1:n.*710+1G>A
ENST00000486715.5:c.2070+1G>A	ENSP00000419038.1:n.2070+1G>A
XM_006713795.1:c.1953+1G>A	XP_006713858.1:n.1953+1G>A
XM_006713795.2:c.1953+1G>A	XP_006713858.1:n.1953+1G>A