Canonical Allele Identifier: CA355181826
Community Standard Title: NM_024996.7(GFM1):c.1765-2A>G
Gene: GFM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.158684522A>G , CM000665.2:g.158684522A>G GRCh38
NC_000003.11:g.158402311A>G , CM000665.1:g.158402311A>G GRCh37
NC_000003.10:g.159885005A>G NCBI36
NG_008441.1:g.44995A>G

Transcript Alleles

HGVS Amino-acid Change
NM_024996.7:c.1765-2A>G MANE Select NP_079272.4:n.1765-2A>G
ENST00000486715.6:c.1765-2A>G MANE Select ENSP00000419038.1:n.1765-2A>G
NM_001308164.1:c.1822-2A>G NP_001295093.1:n.1822-2A>G
NM_001308164.2:c.1822-2A>G NP_001295093.1:n.1822-2A>G
NM_001374355.1:c.1684-2A>G NP_001361284.1:n.1684-2A>G
NM_001374356.1:c.1648-2A>G NP_001361285.1:n.1648-2A>G
NM_001374357.1:c.1540-2A>G NP_001361286.1:n.1540-2A>G
NM_001374358.1:c.1306-2A>G NP_001361287.1:n.1306-2A>G
NM_001374359.1:c.1198-2A>G NP_001361288.1:n.1198-2A>G
NM_001374360.1:c.1198-2A>G NP_001361289.1:n.1198-2A>G
NM_001374361.1:c.1081-2A>G NP_001361290.1:n.1081-2A>G
NM_024996.5:c.1765-2A>G NP_079272.4:n.1765-2A>G
NR_164499.1:n.1788-2A>G
NR_164500.1:n.1872+2365A>G
NR_164501.1:n.1417+2365A>G
NR_164502.1:n.1752-2A>G
ENST00000264263.9:c.1822-2A>G ENSP00000264263.5:n.1822-2A>G
ENST00000477721.1:n.171-2A>G
ENST00000478254.5:c.*405-2A>G ENSP00000417225.1:n.*405-2A>G
ENST00000481468.1:n.52-2A>G
ENST00000486715.5:c.1765-2A>G ENSP00000419038.1:n.1765-2A>G
XM_006713795.1:c.1648-2A>G XP_006713858.1:n.1648-2A>G
XM_006713795.2:c.1648-2A>G XP_006713858.1:n.1648-2A>G