Canonical Allele Identifier: CA355182227

Gene: GFM1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158684670T>A , CM000665.2:g.158684670T>A	GRCh38
NC_000003.11:g.158402459T>A , CM000665.1:g.158402459T>A	GRCh37
NC_000003.10:g.159885153T>A	NCBI36
NG_008441.1:g.45143T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024996.7:c.1909+2T>A MANE Select	NP_079272.4:n.1909+2T>A
ENST00000486715.6:c.1909+2T>A MANE Select	ENSP00000419038.1:n.1909+2T>A
NM_001308164.1:c.1966+2T>A	NP_001295093.1:n.1966+2T>A
NM_001308164.2:c.1966+2T>A	NP_001295093.1:n.1966+2T>A
NM_001374355.1:c.1828+2T>A	NP_001361284.1:n.1828+2T>A
NM_001374356.1:c.1792+2T>A	NP_001361285.1:n.1792+2T>A
NM_001374357.1:c.1684+2T>A	NP_001361286.1:n.1684+2T>A
NM_001374358.1:c.1450+2T>A	NP_001361287.1:n.1450+2T>A
NM_001374359.1:c.1342+2T>A	NP_001361288.1:n.1342+2T>A
NM_001374360.1:c.1342+2T>A	NP_001361289.1:n.1342+2T>A
NM_001374361.1:c.1225+2T>A	NP_001361290.1:n.1225+2T>A
NM_024996.5:c.1909+2T>A	NP_079272.4:n.1909+2T>A
NR_164499.1:n.1932+2T>A
NR_164500.1:n.1872+2513T>A
NR_164501.1:n.1417+2513T>A
NR_164502.1:n.1896+2T>A
ENST00000264263.9:c.1966+2T>A	ENSP00000264263.5:n.1966+2T>A
ENST00000472383.1:c.38+2T>A
ENST00000477721.1:n.315+2T>A
ENST00000478254.5:c.*549+2T>A	ENSP00000417225.1:n.*549+2T>A
ENST00000481468.1:n.198T>A
ENST00000486715.5:c.1909+2T>A	ENSP00000419038.1:n.1909+2T>A
XM_006713795.1:c.1792+2T>A	XP_006713858.1:n.1792+2T>A
XM_006713795.2:c.1792+2T>A	XP_006713858.1:n.1792+2T>A