Canonical Allele Identifier: CA417529538

Gene: MFSD2A

Linked Data

• MyVariant Identifiers: chr1:g.40431221C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965549C>A , CM000663.2:g.39965549C>A	GRCh38
NC_000001.10:g.40431221C>A , CM000663.1:g.40431221C>A	GRCh37
NC_000001.9:g.40203808C>A	NCBI36
NG_053084.1:g.15438C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.556C>A MANE Select	ENSP00000361898.6:p.Arg186=
ENST00000372809.5:c.595C>A	ENSP00000361895.5:p.Arg199=
ENST00000372811.9:c.556C>A	ENSP00000361898.5:p.Arg186=
ENST00000420632.6:c.88C>A	ENSP00000391261.2:p.Arg30=
ENST00000434861.5:c.550C>A	ENSP00000407606.1:p.Arg184=
ENST00000469745.5:n.468C>A
ENST00000480630.5:n.1203C>A
ENST00000483824.5:n.691C>A
NM_001136493.2:c.595C>A	NP_001129965.1:p.Arg199=
NM_001287808.1:c.88C>A	NP_001274737.1:p.Arg30=
NM_001287809.1:c.445C>A	NP_001274738.1:p.Arg149=
NM_032793.4:c.556C>A	NP_116182.2:p.Arg186=
NR_109896.1:n.737C>A
XM_005271285.1:c.550C>A	XP_005271342.1:p.Arg184=
XM_011542312.1:c.556C>A	XP_011540614.1:p.Arg186=
XR_946783.1:n.704C>A
NM_001349821.1:c.550C>A	NP_001336750.1:p.Arg184=
NM_001349822.1:c.556C>A	NP_001336751.1:p.Arg186=
NM_001349823.1:c.211C>A	NP_001336752.1:p.Arg71=
NM_001136493.3:c.595C>A	NP_001129965.1:p.Arg199=
NM_001287809.2:c.445C>A	NP_001274738.1:p.Arg149=
NM_001349821.2:c.550C>A	NP_001336750.1:p.Arg184=
NM_001349822.2:c.556C>A	NP_001336751.1:p.Arg186=
NM_001349823.2:c.211C>A	NP_001336752.1:p.Arg71=
NM_032793.5:c.556C>A MANE Select	NP_116182.2:p.Arg186=
NR_109896.2:n.704C>A
NM_001287808.2:c.88C>A	NP_001274737.1:p.Arg30=