Canonical Allele Identifier: CA339835034

Gene: MFSD2A

Linked Data

• MyVariant Identifiers: chr1:g.40431205T>G (hg19) ; chr1:g.39965533T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.540T>G MANE Select	ENSP00000361898.6:p.Asp180Glu
ENST00000372809.5:c.579T>G	ENSP00000361895.5:p.Asp193Glu
ENST00000372811.9:c.540T>G	ENSP00000361898.5:p.Asp180Glu
ENST00000420632.6:c.72T>G	ENSP00000391261.2:p.Asp24Glu
ENST00000434861.5:c.534T>G	ENSP00000407606.1:p.Asp178Glu
ENST00000469745.5:n.452T>G
ENST00000480630.5:n.1187T>G
ENST00000483824.5:n.675T>G
NM_001136493.2:c.579T>G	NP_001129965.1:p.Asp193Glu
NM_001287808.1:c.72T>G	NP_001274737.1:p.Asp24Glu
NM_001287809.1:c.429T>G	NP_001274738.1:p.Asp143Glu
NM_032793.4:c.540T>G	NP_116182.2:p.Asp180Glu
NR_109896.1:n.721T>G
XM_005271285.1:c.534T>G	XP_005271342.1:p.Asp178Glu
XM_011542312.1:c.540T>G	XP_011540614.1:p.Asp180Glu
XR_946783.1:n.688T>G
NM_001349821.1:c.534T>G	NP_001336750.1:p.Asp178Glu
NM_001349822.1:c.540T>G	NP_001336751.1:p.Asp180Glu
NM_001349823.1:c.195T>G	NP_001336752.1:p.Asp65Glu
NM_001136493.3:c.579T>G	NP_001129965.1:p.Asp193Glu
NM_001287809.2:c.429T>G	NP_001274738.1:p.Asp143Glu
NM_001349821.2:c.534T>G	NP_001336750.1:p.Asp178Glu
NM_001349822.2:c.540T>G	NP_001336751.1:p.Asp180Glu
NM_001349823.2:c.195T>G	NP_001336752.1:p.Asp65Glu
NM_032793.5:c.540T>G MANE Select	NP_116182.2:p.Asp180Glu
NR_109896.2:n.688T>G
NM_001287808.2:c.72T>G	NP_001274737.1:p.Asp24Glu