Canonical Allele Identifier: CA2683123

Gene: GFM1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.158691378T>C , CM000665.2:g.158691378T>C	GRCh38
NC_000003.11:g.158409167T>C , CM000665.1:g.158409167T>C	GRCh37
NC_000003.10:g.159891861T>C	NCBI36
NG_008441.1:g.51851T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024996.7:c.2167T>C MANE Select	NP_079272.4:p.Cys723Arg
ENST00000486715.6:c.2167T>C MANE Select	ENSP00000419038.1:p.Cys723Arg
NM_001308164.1:c.2224T>C	NP_001295093.1:p.Cys742Arg
NM_001308164.2:c.2224T>C	NP_001295093.1:p.Cys742Arg
NM_001374355.1:c.2086T>C	NP_001361284.1:p.Cys696Arg
NM_001374356.1:c.2050T>C	NP_001361285.1:p.Cys684Arg
NM_001374357.1:c.1942T>C	NP_001361286.1:p.Cys648Arg
NM_001374358.1:c.1708T>C	NP_001361287.1:p.Cys570Arg
NM_001374359.1:c.1600T>C	NP_001361288.1:p.Cys534Arg
NM_001374360.1:c.1546T>C	NP_001361289.1:p.Cys516Arg
NM_001374361.1:c.1483T>C	NP_001361290.1:p.Cys495Arg
NM_024996.5:c.2167T>C	NP_079272.4:p.Cys723Arg
NR_164499.1:n.2190T>C
NR_164500.1:n.2130T>C
NR_164501.1:n.1675T>C
NR_164502.1:n.2154T>C
ENST00000264263.9:c.2224T>C	ENSP00000264263.5:p.Cys742Arg
ENST00000472383.1:c.135T>C
ENST00000478254.5:c.*807T>C	ENSP00000417225.1:n.*807T>C
ENST00000486715.5:c.2167T>C	ENSP00000419038.1:p.Cys723Arg
XM_006713795.1:c.2050T>C	XP_006713858.1:p.Cys684Arg
XM_006713795.2:c.2050T>C	XP_006713858.1:p.Cys684Arg