Canonical Allele Identifier: CA355175614

Gene: GFM1 LXN

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158646254C>G , CM000665.2:g.158646254C>G	GRCh38
NC_000003.11:g.158364043C>G , CM000665.1:g.158364043C>G	GRCh37
NC_000003.10:g.159846737C>G	NCBI36
NG_008441.1:g.6727C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024996.7:c.324C>G (GFM1) MANE Select	NP_079272.4:p.Tyr108Ter
ENST00000486715.6:c.324C>G (GFM1) MANE Select	ENSP00000419038.1:p.Tyr108Ter
NM_001308164.1:c.324C>G (GFM1)	NP_001295093.1:p.Tyr108Ter
NM_001308164.2:c.324C>G (GFM1)	NP_001295093.1:p.Tyr108Ter
NM_001308166.1:c.324C>G (GFM1)	NP_001295095.1:p.Tyr108Ter
NM_001308166.2:c.324C>G (GFM1)	NP_001295095.1:p.Tyr108Ter
NM_001374355.1:c.324C>G (GFM1)	NP_001361284.1:p.Tyr108Ter
NM_001374356.1:c.324C>G (GFM1)	NP_001361285.1:p.Tyr108Ter
NM_001374357.1:c.99C>G (GFM1)	NP_001361286.1:p.Tyr33Ter
NM_001374358.1:c.234+473C>G (GFM1)	NP_001361287.1:n.234+473C>G
NM_001374359.1:c.5+473C>G (GFM1)	NP_001361288.1:n.5+473C>G
NM_001374360.1:c.5+473C>G (GFM1)	NP_001361289.1:n.5+473C>G
NM_001374361.1:c.5+473C>G (GFM1)	NP_001361290.1:n.5+473C>G
NM_024996.5:c.324C>G (GFM1)	NP_079272.4:p.Tyr108Ter
NR_164499.1:n.432C>G (GFM1)
NR_164500.1:n.432C>G (GFM1)
NR_164501.1:n.342+473C>G (GFM1)
NR_164502.1:n.432C>G (GFM1)
ENST00000264263.9:c.324C>G (GFM1)	ENSP00000264263.5:p.Tyr108Ter
ENST00000464732.1:c.99C>G (GFM1)	ENSP00000417532.1:p.Tyr33Ter
ENST00000478254.5:c.324C>G (GFM1)	ENSP00000417225.1:p.Tyr108Ter
ENST00000478576.5:c.324C>G (GFM1)	ENSP00000418755.1:p.Tyr108Ter
ENST00000482640.5:c.362-45G>C (LXN)
ENST00000486715.5:c.324C>G (GFM1)	ENSP00000419038.1:p.Tyr108Ter
XM_006713795.1:c.324C>G (GFM1)	XP_006713858.1:p.Tyr108Ter
XM_006713795.2:c.324C>G (GFM1)	XP_006713858.1:p.Tyr108Ter