Canonical Allele Identifier: CA291065

Gene: GFM1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158690243G>A , CM000665.2:g.158690243G>A	GRCh38
NC_000003.11:g.158408032G>A , CM000665.1:g.158408032G>A	GRCh37
NC_000003.10:g.159890726G>A	NCBI36
NG_008441.1:g.50716G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486715.6:c.1990G>A MANE Select	ENSP00000419038.1:p.Val664Ile
ENST00000264263.9:c.2047G>A	ENSP00000264263.5:p.Val683Ile
ENST00000472383.1:c.39-896G>A
ENST00000477721.1:n.396G>A
ENST00000478254.5:c.*630G>A	ENSP00000417225.1:n.*630G>A
ENST00000486715.5:c.1990G>A	ENSP00000419038.1:p.Val664Ile
NM_001308164.1:c.2047G>A	NP_001295093.1:p.Val683Ile
NM_024996.5:c.1990G>A	NP_079272.4:p.Val664Ile
XM_006713795.1:c.1873G>A	XP_006713858.1:p.Val625Ile
XM_006713795.2:c.1873G>A	XP_006713858.1:p.Val625Ile
NM_001374355.1:c.1909G>A	NP_001361284.1:p.Val637Ile
NM_001374356.1:c.1873G>A	NP_001361285.1:p.Val625Ile
NM_001374357.1:c.1765G>A	NP_001361286.1:p.Val589Ile
NM_001374358.1:c.1531G>A	NP_001361287.1:p.Val511Ile
NM_001374359.1:c.1423G>A	NP_001361288.1:p.Val475Ile
NM_001374360.1:c.1423G>A	NP_001361289.1:p.Val475Ile
NM_001374361.1:c.1306G>A	NP_001361290.1:p.Val436Ile
NM_024996.7:c.1990G>A MANE Select	NP_079272.4:p.Val664Ile
NR_164499.1:n.2013G>A
NR_164500.1:n.1953G>A
NR_164501.1:n.1498G>A
NR_164502.1:n.1977G>A
NM_001308164.2:c.2047G>A	NP_001295093.1:p.Val683Ile