Canonical Allele Identifier: CA320591
Gene: GFM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.158644650G>C , CM000665.2:g.158644650G>C GRCh38
NC_000003.11:g.158362439G>C , CM000665.1:g.158362439G>C GRCh37
NC_000003.10:g.159845133G>C NCBI36
NG_008441.1:g.5123G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000486715.6:c.16G>C MANE Select ENSP00000419038.1:p.Ala6Pro
ENST00000264263.9:c.16G>C ENSP00000264263.5:p.Ala6Pro
ENST00000478254.5:c.16G>C ENSP00000417225.1:p.Ala6Pro
ENST00000478576.5:c.16G>C ENSP00000418755.1:p.Ala6Pro
ENST00000486715.5:c.16G>C ENSP00000419038.1:p.Ala6Pro
NM_001308164.1:c.16G>C NP_001295093.1:p.Ala6Pro
NM_001308166.1:c.16G>C NP_001295095.1:p.Ala6Pro
NM_024996.5:c.16G>C NP_079272.4:p.Ala6Pro
XM_006713795.1:c.16G>C XP_006713858.1:p.Ala6Pro
XM_006713795.2:c.16G>C XP_006713858.1:p.Ala6Pro
NM_001374355.1:c.16G>C NP_001361284.1:p.Ala6Pro
NM_001374356.1:c.16G>C NP_001361285.1:p.Ala6Pro
NM_001374357.1:c.-376G>C NP_001361286.1:n.-376G>C
NM_001374358.1:c.16G>C NP_001361287.1:p.Ala6Pro
NM_001374359.1:c.-214G>C NP_001361288.1:n.-214G>C
NM_001374360.1:c.-214G>C NP_001361289.1:n.-214G>C
NM_001374361.1:c.-214G>C NP_001361290.1:n.-214G>C
NM_024996.7:c.16G>C MANE Select NP_079272.4:p.Ala6Pro
NR_164499.1:n.124G>C
NR_164500.1:n.124G>C
NR_164501.1:n.124G>C
NR_164502.1:n.124G>C
NM_001308164.2:c.16G>C NP_001295093.1:p.Ala6Pro
NM_001308166.2:c.16G>C NP_001295095.1:p.Ala6Pro