Canonical Allele Identifier: CA364075894

Gene: MDFI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.41649637C>G , CM000668.2:g.41649637C>G	GRCh38
NC_000006.11:g.41617375C>G , CM000668.1:g.41617375C>G	GRCh37
NC_000006.10:g.41725353C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005586.4:c.278C>G MANE Select	NP_005577.1:p.Pro93Arg
ENST00000230321.11:c.278C>G MANE Select	ENSP00000230321.6:p.Pro93Arg
NM_001300804.1:c.278C>G	NP_001287733.1:p.Pro93Arg
NM_001300804.2:c.278C>G	NP_001287733.1:p.Pro93Arg
NM_001300805.1:c.95C>G	NP_001287734.1:p.Pro32Arg
NM_001300805.2:c.95C>G	NP_001287734.1:p.Pro32Arg
NM_001300806.1:c.278C>G	NP_001287735.1:p.Pro93Arg
NM_001300806.2:c.278C>G	NP_001287735.1:p.Pro93Arg
NM_005586.3:c.278C>G	NP_005577.1:p.Pro93Arg
ENST00000230321.10:c.278C>G	ENSP00000230321.6:p.Pro93Arg
ENST00000373050.8:c.95C>G	ENSP00000362141.4:p.Pro32Arg
ENST00000373051.6:c.278C>G	ENSP00000362142.2:p.Pro93Arg
ENST00000419164.5:c.278C>G	ENSP00000393881.1:p.Pro93Arg
ENST00000419164.6:c.278C>G	ENSP00000393881.1:p.Pro93Arg
ENST00000432027.5:c.278C>G	ENSP00000413226.1:p.Pro93Arg
ENST00000435476.1:c.95C>G	ENSP00000403587.1:p.Pro32Arg
ENST00000441667.5:c.278C>G	ENSP00000406600.1:p.Pro93Arg
ENST00000446650.1:c.278C>G	ENSP00000411829.1:p.Pro93Arg
ENST00000471092.1:n.74C>G
XM_005249117.2:c.227C>G	XP_005249174.1:p.Pro76Arg
XM_005249117.3:c.227C>G	XP_005249174.1:p.Pro76Arg
XM_005249118.3:c.98C>G	XP_005249175.1:p.Pro33Arg
XM_011514625.1:c.227C>G	XP_011512927.1:p.Pro76Arg
XM_011514625.2:c.227C>G	XP_011512927.1:p.Pro76Arg
XM_011514626.1:c.95C>G	XP_011512928.1:p.Pro32Arg
XM_011514626.2:c.95C>G	XP_011512928.1:p.Pro32Arg
XM_017010867.1:c.98C>G	XP_016866356.1:p.Pro33Arg