Canonical Allele Identifier: CA436483930

Gene: GFM1 LXN

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158659079G>A , CM000665.2:g.158659079G>A	GRCh38
NC_000003.11:g.158376868G>A , CM000665.1:g.158376868G>A	GRCh37
NC_000003.10:g.159859562G>A	NCBI36
NG_008441.1:g.19552G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024996.7:c.1221+20G>A (GFM1) MANE Select	NP_079272.4:n.1221+20G>A
ENST00000486715.6:c.1221+20G>A (GFM1) MANE Select	ENSP00000419038.1:n.1221+20G>A
NM_001308164.1:c.1278+20G>A (GFM1)	NP_001295093.1:n.1278+20G>A
NM_001308164.2:c.1278+20G>A (GFM1)	NP_001295093.1:n.1278+20G>A
NM_001308166.1:c.1221+20G>A (GFM1)	NP_001295095.1:n.1221+20G>A
NM_001308166.2:c.1221+20G>A (GFM1)	NP_001295095.1:n.1221+20G>A
NM_001374355.1:c.1141-1795G>A (GFM1)	NP_001361284.1:n.1141-1795G>A
NM_001374356.1:c.1104+20G>A (GFM1)	NP_001361285.1:n.1104+20G>A
NM_001374357.1:c.996+20G>A (GFM1)	NP_001361286.1:n.996+20G>A
NM_001374358.1:c.762+20G>A (GFM1)	NP_001361287.1:n.762+20G>A
NM_001374359.1:c.654+20G>A (GFM1)	NP_001361288.1:n.654+20G>A
NM_001374360.1:c.654+20G>A (GFM1)	NP_001361289.1:n.654+20G>A
NM_001374361.1:c.537+20G>A (GFM1)	NP_001361290.1:n.537+20G>A
NM_024996.5:c.1221+20G>A (GFM1)	NP_079272.4:n.1221+20G>A
NR_164499.1:n.1244+20G>A (GFM1)
NR_164500.1:n.1329+20G>A (GFM1)
NR_164501.1:n.874+20G>A (GFM1)
NR_164502.1:n.1208+20G>A (GFM1)
ENST00000264263.9:c.1278+20G>A (GFM1)	ENSP00000264263.5:n.1278+20G>A
ENST00000478254.5:c.1232+9G>A (GFM1)	ENSP00000417225.1:n.1232+9G>A
ENST00000478576.5:c.1221+20G>A (GFM1)	ENSP00000418755.1:n.1221+20G>A
ENST00000482640.5:c.361+7933C>T (LXN)
ENST00000486715.5:c.1221+20G>A (GFM1)	ENSP00000419038.1:n.1221+20G>A
XM_006713795.1:c.1104+20G>A (GFM1)	XP_006713858.1:n.1104+20G>A
XM_006713795.2:c.1104+20G>A (GFM1)	XP_006713858.1:n.1104+20G>A