Canonical Allele Identifier: CA9726103

Gene: PSMF1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.1135294G>A , CM000682.2:g.1135294G>A	GRCh38
NC_000020.10:g.1115937G>A , CM000682.1:g.1115937G>A	GRCh37
NC_000020.9:g.1063937G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006814.5:c.539G>A MANE Select	NP_006805.2:p.Arg180Gln
ENST00000335877.11:c.539G>A MANE Select	ENSP00000338039.6:p.Arg180Gln
NM_001323407.1:c.275G>A	NP_001310336.1:p.Arg92Gln
NM_001323407.2:c.275G>A	NP_001310336.1:p.Arg92Gln
NM_001323408.1:c.539G>A	NP_001310337.1:p.Arg180Gln
NM_001323408.2:c.539G>A	NP_001310337.1:p.Arg180Gln
NM_001323409.1:c.539G>A	NP_001310338.1:p.Arg180Gln
NM_001323409.2:c.539G>A	NP_001310338.1:p.Arg180Gln
NM_001323410.1:c.539G>A	NP_001310339.1:p.Arg180Gln
NM_001323410.2:c.539G>A	NP_001310339.1:p.Arg180Gln
NM_006814.3:c.539G>A	NP_006805.2:p.Arg180Gln
NM_006814.4:c.539G>A	NP_006805.2:p.Arg180Gln
NM_178578.2:c.539G>A	NP_848693.2:p.Arg180Gln
NM_178578.3:c.539G>A	NP_848693.2:p.Arg180Gln
NM_178578.4:c.539G>A	NP_848693.2:p.Arg180Gln
ENST00000246015.8:c.539G>A	ENSP00000246015.4:p.Arg180Gln
ENST00000333082.7:c.539G>A	ENSP00000327704.3:p.Arg180Gln
ENST00000335877.10:c.539G>A	ENSP00000338039.6:p.Arg180Gln
ENST00000381898.5:c.17G>A	ENSP00000371323.5:p.Arg6Gln
ENST00000381899.8:c.539G>A	ENSP00000371324.4:p.Arg180Gln
ENST00000435720.5:c.117G>A
ENST00000478004.1:n.620G>A
ENST00000479715.5:n.514G>A
ENST00000484891.1:n.455G>A
ENST00000652336.1:c.539G>A	ENSP00000499011.1:p.Arg180Gln
XM_005260873.2:c.539G>A	XP_005260930.1:p.Arg180Gln
XM_005260874.2:c.539G>A	XP_005260931.1:p.Arg180Gln
XM_006723664.2:c.539G>A	XP_006723727.1:p.Arg180Gln
XM_024452019.1:c.275G>A	XP_024307787.1:p.Arg92Gln