Canonical Allele Identifier: CA2668341856

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.158648995T>G , CM000665.2:g.158648995T>G GRCh38
NC_000003.11:g.158366784T>G , CM000665.1:g.158366784T>G GRCh37
NC_000003.10:g.159849478T>G NCBI36
NG_008441.1:g.9468T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000486715.6:c.573-46T>G (GFM1) MANE Select ENSP00000419038.1:n.573-46T>G
ENST00000264263.9:c.573-46T>G (GFM1) ENSP00000264263.5:n.573-46T>G
ENST00000478251.1:n.61-46T>G (GFM1)
ENST00000478254.5:c.573-46T>G (GFM1) ENSP00000417225.1:n.573-46T>G
ENST00000478576.5:c.573-46T>G (GFM1) ENSP00000418755.1:n.573-46T>G
ENST00000482640.5:c.362-2786A>C (LXN)
ENST00000486715.5:c.573-46T>G (GFM1) ENSP00000419038.1:n.573-46T>G
NM_001308164.1:c.573-46T>G (GFM1) NP_001295093.1:n.573-46T>G
NM_001308166.1:c.573-46T>G (GFM1) NP_001295095.1:n.573-46T>G
NM_024996.5:c.573-46T>G (GFM1) NP_079272.4:n.573-46T>G
XM_006713795.1:c.572+2048T>G (GFM1) XP_006713858.1:n.572+2048T>G
XM_006713795.2:c.572+2048T>G (GFM1) XP_006713858.1:n.572+2048T>G
NM_001374355.1:c.573-46T>G (GFM1) NP_001361284.1:n.573-46T>G
NM_001374356.1:c.572+2048T>G (GFM1) NP_001361285.1:n.572+2048T>G
NM_001374357.1:c.348-46T>G (GFM1) NP_001361286.1:n.348-46T>G
NM_001374358.1:c.235-3105T>G (GFM1) NP_001361287.1:n.235-3105T>G
NM_001374359.1:c.6-46T>G (GFM1) NP_001361288.1:n.6-46T>G
NM_001374360.1:c.6-46T>G (GFM1) NP_001361289.1:n.6-46T>G
NM_001374361.1:c.6-3101T>G (GFM1) NP_001361290.1:n.6-3101T>G
NM_024996.7:c.573-46T>G (GFM1) MANE Select NP_079272.4:n.573-46T>G
NR_164499.1:n.681-46T>G (GFM1)
NR_164500.1:n.681-46T>G (GFM1)
NR_164501.1:n.343-3101T>G (GFM1)
NR_164502.1:n.680+2048T>G (GFM1)
NM_001308164.2:c.573-46T>G (GFM1) NP_001295093.1:n.573-46T>G
NM_001308166.2:c.573-46T>G (GFM1) NP_001295095.1:n.573-46T>G