Canonical Allele Identifier: CA339834641

Gene: MFSD2A

Linked Data

• MyVariant Identifiers: chr1:g.40431146T>G (hg19) ; chr1:g.39965474T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965474T>G , CM000663.2:g.39965474T>G	GRCh38
NC_000001.10:g.40431146T>G , CM000663.1:g.40431146T>G	GRCh37
NC_000001.9:g.40203733T>G	NCBI36
NG_053084.1:g.15363T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.481T>G MANE Select	ENSP00000361898.6:p.Phe161Val
ENST00000372809.5:c.520T>G	ENSP00000361895.5:p.Phe174Val
ENST00000372811.9:c.481T>G	ENSP00000361898.5:p.Phe161Val
ENST00000420632.6:c.13T>G	ENSP00000391261.2:p.Phe5Val
ENST00000434861.5:c.475T>G	ENSP00000407606.1:p.Phe159Val
ENST00000469745.5:n.393T>G
ENST00000480630.5:n.1128T>G
ENST00000483824.5:n.616T>G
NM_001136493.2:c.520T>G	NP_001129965.1:p.Phe174Val
NM_001287808.1:c.13T>G	NP_001274737.1:p.Phe5Val
NM_001287809.1:c.370T>G	NP_001274738.1:p.Phe124Val
NM_032793.4:c.481T>G	NP_116182.2:p.Phe161Val
NR_109896.1:n.662T>G
XM_005271285.1:c.475T>G	XP_005271342.1:p.Phe159Val
XM_011542312.1:c.481T>G	XP_011540614.1:p.Phe161Val
XR_946783.1:n.629T>G
NM_001349821.1:c.475T>G	NP_001336750.1:p.Phe159Val
NM_001349822.1:c.481T>G	NP_001336751.1:p.Phe161Val
NM_001349823.1:c.136T>G	NP_001336752.1:p.Phe46Val
NM_001136493.3:c.520T>G	NP_001129965.1:p.Phe174Val
NM_001287809.2:c.370T>G	NP_001274738.1:p.Phe124Val
NM_001349821.2:c.475T>G	NP_001336750.1:p.Phe159Val
NM_001349822.2:c.481T>G	NP_001336751.1:p.Phe161Val
NM_001349823.2:c.136T>G	NP_001336752.1:p.Phe46Val
NM_032793.5:c.481T>G MANE Select	NP_116182.2:p.Phe161Val
NR_109896.2:n.629T>G
NM_001287808.2:c.13T>G	NP_001274737.1:p.Phe5Val