Canonical Allele Identifier: CA417529527

Gene: MFSD2A

Linked Data

• MyVariant Identifiers: chr1:g.40431205T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965533T>C , CM000663.2:g.39965533T>C	GRCh38
NC_000001.10:g.40431205T>C , CM000663.1:g.40431205T>C	GRCh37
NC_000001.9:g.40203792T>C	NCBI36
NG_053084.1:g.15422T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.540T>C MANE Select	ENSP00000361898.6:p.Asp180=
ENST00000372809.5:c.579T>C	ENSP00000361895.5:p.Asp193=
ENST00000372811.9:c.540T>C	ENSP00000361898.5:p.Asp180=
ENST00000420632.6:c.72T>C	ENSP00000391261.2:p.Asp24=
ENST00000434861.5:c.534T>C	ENSP00000407606.1:p.Asp178=
ENST00000469745.5:n.452T>C
ENST00000480630.5:n.1187T>C
ENST00000483824.5:n.675T>C
NM_001136493.2:c.579T>C	NP_001129965.1:p.Asp193=
NM_001287808.1:c.72T>C	NP_001274737.1:p.Asp24=
NM_001287809.1:c.429T>C	NP_001274738.1:p.Asp143=
NM_032793.4:c.540T>C	NP_116182.2:p.Asp180=
NR_109896.1:n.721T>C
XM_005271285.1:c.534T>C	XP_005271342.1:p.Asp178=
XM_011542312.1:c.540T>C	XP_011540614.1:p.Asp180=
XR_946783.1:n.688T>C
NM_001349821.1:c.534T>C	NP_001336750.1:p.Asp178=
NM_001349822.1:c.540T>C	NP_001336751.1:p.Asp180=
NM_001349823.1:c.195T>C	NP_001336752.1:p.Asp65=
NM_001136493.3:c.579T>C	NP_001129965.1:p.Asp193=
NM_001287809.2:c.429T>C	NP_001274738.1:p.Asp143=
NM_001349821.2:c.534T>C	NP_001336750.1:p.Asp178=
NM_001349822.2:c.540T>C	NP_001336751.1:p.Asp180=
NM_001349823.2:c.195T>C	NP_001336752.1:p.Asp65=
NM_032793.5:c.540T>C MANE Select	NP_116182.2:p.Asp180=
NR_109896.2:n.688T>C
NM_001287808.2:c.72T>C	NP_001274737.1:p.Asp24=