Canonical Allele Identifier: CA339834900

Gene: MFSD2A

Linked Data

• MyVariant Identifiers: chr1:g.40431189A>C (hg19) ; chr1:g.39965517A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965517A>C , CM000663.2:g.39965517A>C	GRCh38
NC_000001.10:g.40431189A>C , CM000663.1:g.40431189A>C	GRCh37
NC_000001.9:g.40203776A>C	NCBI36
NG_053084.1:g.15406A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.524A>C MANE Select	ENSP00000361898.6:p.Glu175Ala
ENST00000372809.5:c.563A>C	ENSP00000361895.5:p.Glu188Ala
ENST00000372811.9:c.524A>C	ENSP00000361898.5:p.Glu175Ala
ENST00000420632.6:c.56A>C	ENSP00000391261.2:p.Glu19Ala
ENST00000434861.5:c.518A>C	ENSP00000407606.1:p.Glu173Ala
ENST00000469745.5:n.436A>C
ENST00000480630.5:n.1171A>C
ENST00000483824.5:n.659A>C
NM_001136493.2:c.563A>C	NP_001129965.1:p.Glu188Ala
NM_001287808.1:c.56A>C	NP_001274737.1:p.Glu19Ala
NM_001287809.1:c.413A>C	NP_001274738.1:p.Glu138Ala
NM_032793.4:c.524A>C	NP_116182.2:p.Glu175Ala
NR_109896.1:n.705A>C
XM_005271285.1:c.518A>C	XP_005271342.1:p.Glu173Ala
XM_011542312.1:c.524A>C	XP_011540614.1:p.Glu175Ala
XR_946783.1:n.672A>C
NM_001349821.1:c.518A>C	NP_001336750.1:p.Glu173Ala
NM_001349822.1:c.524A>C	NP_001336751.1:p.Glu175Ala
NM_001349823.1:c.179A>C	NP_001336752.1:p.Glu60Ala
NM_001136493.3:c.563A>C	NP_001129965.1:p.Glu188Ala
NM_001287809.2:c.413A>C	NP_001274738.1:p.Glu138Ala
NM_001349821.2:c.518A>C	NP_001336750.1:p.Glu173Ala
NM_001349822.2:c.524A>C	NP_001336751.1:p.Glu175Ala
NM_001349823.2:c.179A>C	NP_001336752.1:p.Glu60Ala
NM_032793.5:c.524A>C MANE Select	NP_116182.2:p.Glu175Ala
NR_109896.2:n.672A>C
NM_001287808.2:c.56A>C	NP_001274737.1:p.Glu19Ala