Canonical Allele Identifier: CA417529469

Gene: MFSD2A

Linked Data

• MyVariant Identifiers: chr1:g.40431154T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965482T>A , CM000663.2:g.39965482T>A	GRCh38
NC_000001.10:g.40431154T>A , CM000663.1:g.40431154T>A	GRCh37
NC_000001.9:g.40203741T>A	NCBI36
NG_053084.1:g.15371T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.489T>A MANE Select	ENSP00000361898.6:p.Val163=
ENST00000372809.5:c.528T>A	ENSP00000361895.5:p.Val176=
ENST00000372811.9:c.489T>A	ENSP00000361898.5:p.Val163=
ENST00000420632.6:c.21T>A	ENSP00000391261.2:p.Val7=
ENST00000434861.5:c.483T>A	ENSP00000407606.1:p.Val161=
ENST00000469745.5:n.401T>A
ENST00000480630.5:n.1136T>A
ENST00000483824.5:n.624T>A
NM_001136493.2:c.528T>A	NP_001129965.1:p.Val176=
NM_001287808.1:c.21T>A	NP_001274737.1:p.Val7=
NM_001287809.1:c.378T>A	NP_001274738.1:p.Val126=
NM_032793.4:c.489T>A	NP_116182.2:p.Val163=
NR_109896.1:n.670T>A
XM_005271285.1:c.483T>A	XP_005271342.1:p.Val161=
XM_011542312.1:c.489T>A	XP_011540614.1:p.Val163=
XR_946783.1:n.637T>A
NM_001349821.1:c.483T>A	NP_001336750.1:p.Val161=
NM_001349822.1:c.489T>A	NP_001336751.1:p.Val163=
NM_001349823.1:c.144T>A	NP_001336752.1:p.Val48=
NM_001136493.3:c.528T>A	NP_001129965.1:p.Val176=
NM_001287809.2:c.378T>A	NP_001274738.1:p.Val126=
NM_001349821.2:c.483T>A	NP_001336750.1:p.Val161=
NM_001349822.2:c.489T>A	NP_001336751.1:p.Val163=
NM_001349823.2:c.144T>A	NP_001336752.1:p.Val48=
NM_032793.5:c.489T>A MANE Select	NP_116182.2:p.Val163=
NR_109896.2:n.637T>A
NM_001287808.2:c.21T>A	NP_001274737.1:p.Val7=