Canonical Allele Identifier: CA1812415

Gene: MFSD9

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.102726947G>A , CM000664.2:g.102726947G>A	GRCh38
NC_000002.11:g.103343406G>A , CM000664.1:g.103343406G>A	GRCh37
NC_000002.10:g.102709838G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_032718.5:c.325C>T MANE Select	NP_116107.3:p.Arg109Trp
ENST00000258436.10:c.325C>T MANE Select	ENSP00000258436.5:p.Arg109Trp
NM_001322080.1:c.142C>T	NP_001309009.1:p.Arg48Trp
NM_001322080.2:c.142C>T	NP_001309009.1:p.Arg48Trp
NM_001322081.1:c.142C>T	NP_001309010.1:p.Arg48Trp
NM_001322081.2:c.142C>T	NP_001309010.1:p.Arg48Trp
NM_032718.3:c.325C>T	NP_116107.3:p.Arg109Trp
NM_032718.4:c.325C>T	NP_116107.3:p.Arg109Trp
NR_136173.1:n.518C>T
NR_136173.2:n.518C>T
NR_136174.1:n.403C>T
NR_136174.2:n.403C>T
ENST00000258436.9:c.325C>T	ENSP00000258436.5:p.Arg109Trp
ENST00000411991.5:c.*161C>T	ENSP00000392605.1:n.*161C>T
ENST00000421966.1:c.*240C>T	ENSP00000402411.1:n.*240C>T
ENST00000428085.1:c.91C>T	ENSP00000413641.1:p.Arg31Trp
ENST00000437075.6:c.*126C>T	ENSP00000414870.2:n.*126C>T
ENST00000438943.5:c.*161C>T	ENSP00000408630.1:n.*161C>T
XM_005264032.1:c.142C>T	XP_005264089.1:p.Arg48Trp
XM_011512004.1:c.142C>T	XP_011510306.1:p.Arg48Trp
XM_011512005.1:c.142C>T	XP_011510307.1:p.Arg48Trp
XM_011512005.2:c.142C>T	XP_011510307.1:p.Arg48Trp
XM_011512006.1:c.84-3069C>T	XP_011510308.1:n.84-3069C>T
XM_011512006.2:c.84-3069C>T	XP_011510308.1:n.84-3069C>T
XM_011512007.1:c.36-3069C>T	XP_011510309.1:n.36-3069C>T
XM_011512007.2:c.36-3069C>T	XP_011510309.1:n.36-3069C>T
XR_923047.1:n.357C>T
XR_923047.2:n.357C>T