Canonical Allele Identifier: CA1164196359

Gene: MFSD2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965516G= , CM000663.2:g.39965516G=	GRCh38
NC_000001.10:g.40431188G= , CM000663.1:g.40431188G=	GRCh37
NC_000001.9:g.40203775G=	NCBI36
NG_053084.1:g.15405G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.523G= MANE Select	ENSP00000361898.6:p.Glu175=
ENST00000372809.5:c.562G=	ENSP00000361895.5:p.Glu188=
ENST00000372811.9:c.523G=	ENSP00000361898.5:p.Glu175=
ENST00000420632.6:c.55G=	ENSP00000391261.2:p.Glu19=
ENST00000434861.5:c.517G=	ENSP00000407606.1:p.Glu173=
ENST00000469745.5:n.435G=
ENST00000480630.5:n.1170G=
ENST00000483824.5:n.658G=
NM_001136493.2:c.562G=	NP_001129965.1:p.Glu188=
NM_001287808.1:c.55G=	NP_001274737.1:p.Glu19=
NM_001287809.1:c.412G=	NP_001274738.1:p.Glu138=
NM_032793.4:c.523G=	NP_116182.2:p.Glu175=
NR_109896.1:n.704G=
XM_005271285.1:c.517G=	XP_005271342.1:p.Glu173=
XM_011542312.1:c.523G=	XP_011540614.1:p.Glu175=
XR_946783.1:n.671G=
NM_001349821.1:c.517G=	NP_001336750.1:p.Glu173=
NM_001349822.1:c.523G=	NP_001336751.1:p.Glu175=
NM_001349823.1:c.178G=	NP_001336752.1:p.Glu60=
NM_001136493.3:c.562G=	NP_001129965.1:p.Glu188=
NM_001287809.2:c.412G=	NP_001274738.1:p.Glu138=
NM_001349821.2:c.517G=	NP_001336750.1:p.Glu173=
NM_001349822.2:c.523G=	NP_001336751.1:p.Glu175=
NM_001349823.2:c.178G=	NP_001336752.1:p.Glu60=
NM_032793.5:c.523G= MANE Select	NP_116182.2:p.Glu175=
NR_109896.2:n.671G=
NM_001287808.2:c.55G=	NP_001274737.1:p.Glu19=