Canonical Allele Identifier: CA2682589

Gene: GFM1 LXN

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158660957C>G , CM000665.2:g.158660957C>G	GRCh38
NC_000003.11:g.158378746C>G , CM000665.1:g.158378746C>G	GRCh37
NC_000003.10:g.159861440C>G	NCBI36
NG_008441.1:g.21430C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024996.7:c.1305C>G (GFM1) MANE Select	NP_079272.4:p.Ala435=
ENST00000486715.6:c.1305C>G (GFM1) MANE Select	ENSP00000419038.1:p.Ala435=
NM_001308164.1:c.1362C>G (GFM1)	NP_001295093.1:p.Ala454=
NM_001308164.2:c.1362C>G (GFM1)	NP_001295093.1:p.Ala454=
NM_001308166.1:c.1305C>G (GFM1)	NP_001295095.1:p.Ala435=
NM_001308166.2:c.1305C>G (GFM1)	NP_001295095.1:p.Ala435=
NM_001374355.1:c.1224C>G (GFM1)	NP_001361284.1:p.Ala408=
NM_001374356.1:c.1188C>G (GFM1)	NP_001361285.1:p.Ala396=
NM_001374357.1:c.1080C>G (GFM1)	NP_001361286.1:p.Ala360=
NM_001374358.1:c.846C>G (GFM1)	NP_001361287.1:p.Ala282=
NM_001374359.1:c.738C>G (GFM1)	NP_001361288.1:p.Ala246=
NM_001374360.1:c.738C>G (GFM1)	NP_001361289.1:p.Ala246=
NM_001374361.1:c.621C>G (GFM1)	NP_001361290.1:p.Ala207=
NM_024996.5:c.1305C>G (GFM1)	NP_079272.4:p.Ala435=
NR_164499.1:n.1328C>G (GFM1)
NR_164500.1:n.1413C>G (GFM1)
NR_164501.1:n.958C>G (GFM1)
NR_164502.1:n.1292C>G (GFM1)
ENST00000264263.9:c.1362C>G (GFM1)	ENSP00000264263.5:p.Ala454=
ENST00000478254.5:c.1307C>G (GFM1)	ENSP00000417225.1:p.Pro436Arg
ENST00000478576.5:c.1305C>G (GFM1)	ENSP00000418755.1:p.Ala435=
ENST00000482640.5:c.361+6055G>C (LXN)
ENST00000486715.5:c.1305C>G (GFM1)	ENSP00000419038.1:p.Ala435=
ENST00000490261.1:n.445C>G (GFM1)
XM_006713795.1:c.1188C>G (GFM1)	XP_006713858.1:p.Ala396=
XM_006713795.2:c.1188C>G (GFM1)	XP_006713858.1:p.Ala396=