Canonical Allele Identifier: CA355182231
Community Standard Title: NM_024996.7(GFM1):c.1910-2A>T
Gene: GFM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.158690161A>T , CM000665.2:g.158690161A>T GRCh38
NC_000003.11:g.158407950A>T , CM000665.1:g.158407950A>T GRCh37
NC_000003.10:g.159890644A>T NCBI36
NG_008441.1:g.50634A>T

Transcript Alleles

HGVS Amino-acid Change
NM_024996.7:c.1910-2A>T MANE Select NP_079272.4:n.1910-2A>T
ENST00000486715.6:c.1910-2A>T MANE Select ENSP00000419038.1:n.1910-2A>T
NM_001308164.1:c.1967-2A>T NP_001295093.1:n.1967-2A>T
NM_001308164.2:c.1967-2A>T NP_001295093.1:n.1967-2A>T
NM_001374355.1:c.1829-2A>T NP_001361284.1:n.1829-2A>T
NM_001374356.1:c.1793-2A>T NP_001361285.1:n.1793-2A>T
NM_001374357.1:c.1685-2A>T NP_001361286.1:n.1685-2A>T
NM_001374358.1:c.1451-2A>T NP_001361287.1:n.1451-2A>T
NM_001374359.1:c.1343-2A>T NP_001361288.1:n.1343-2A>T
NM_001374360.1:c.1343-2A>T NP_001361289.1:n.1343-2A>T
NM_001374361.1:c.1226-2A>T NP_001361290.1:n.1226-2A>T
NM_024996.5:c.1910-2A>T NP_079272.4:n.1910-2A>T
NR_164499.1:n.1933-2A>T
NR_164500.1:n.1873-2A>T
NR_164501.1:n.1418-2A>T
NR_164502.1:n.1897-2A>T
ENST00000264263.9:c.1967-2A>T ENSP00000264263.5:n.1967-2A>T
ENST00000472383.1:c.39-978A>T
ENST00000477721.1:n.316-2A>T
ENST00000478254.5:c.*550-2A>T ENSP00000417225.1:n.*550-2A>T
ENST00000486715.5:c.1910-2A>T ENSP00000419038.1:n.1910-2A>T
XM_006713795.1:c.1793-2A>T XP_006713858.1:n.1793-2A>T
XM_006713795.2:c.1793-2A>T XP_006713858.1:n.1793-2A>T