Canonical Allele Identifier: CA2668341851

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.158648991G>T , CM000665.2:g.158648991G>T GRCh38
NC_000003.11:g.158366780G>T , CM000665.1:g.158366780G>T GRCh37
NC_000003.10:g.159849474G>T NCBI36
NG_008441.1:g.9464G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000486715.6:c.573-50G>T (GFM1) MANE Select ENSP00000419038.1:n.573-50G>T
ENST00000264263.9:c.573-50G>T (GFM1) ENSP00000264263.5:n.573-50G>T
ENST00000478251.1:n.61-50G>T (GFM1)
ENST00000478254.5:c.573-50G>T (GFM1) ENSP00000417225.1:n.573-50G>T
ENST00000478576.5:c.573-50G>T (GFM1) ENSP00000418755.1:n.573-50G>T
ENST00000482640.5:c.362-2782C>A (LXN)
ENST00000486715.5:c.573-50G>T (GFM1) ENSP00000419038.1:n.573-50G>T
NM_001308164.1:c.573-50G>T (GFM1) NP_001295093.1:n.573-50G>T
NM_001308166.1:c.573-50G>T (GFM1) NP_001295095.1:n.573-50G>T
NM_024996.5:c.573-50G>T (GFM1) NP_079272.4:n.573-50G>T
XM_006713795.1:c.572+2044G>T (GFM1) XP_006713858.1:n.572+2044G>T
XM_006713795.2:c.572+2044G>T (GFM1) XP_006713858.1:n.572+2044G>T
NM_001374355.1:c.573-50G>T (GFM1) NP_001361284.1:n.573-50G>T
NM_001374356.1:c.572+2044G>T (GFM1) NP_001361285.1:n.572+2044G>T
NM_001374357.1:c.348-50G>T (GFM1) NP_001361286.1:n.348-50G>T
NM_001374358.1:c.235-3109G>T (GFM1) NP_001361287.1:n.235-3109G>T
NM_001374359.1:c.6-50G>T (GFM1) NP_001361288.1:n.6-50G>T
NM_001374360.1:c.6-50G>T (GFM1) NP_001361289.1:n.6-50G>T
NM_001374361.1:c.6-3105G>T (GFM1) NP_001361290.1:n.6-3105G>T
NM_024996.7:c.573-50G>T (GFM1) MANE Select NP_079272.4:n.573-50G>T
NR_164499.1:n.681-50G>T (GFM1)
NR_164500.1:n.681-50G>T (GFM1)
NR_164501.1:n.343-3105G>T (GFM1)
NR_164502.1:n.680+2044G>T (GFM1)
NM_001308164.2:c.573-50G>T (GFM1) NP_001295093.1:n.573-50G>T
NM_001308166.2:c.573-50G>T (GFM1) NP_001295095.1:n.573-50G>T