Canonical Allele Identifier: CA339834754

Gene: MFSD2A

Linked Data

• MyVariant Identifiers: chr1:g.40431164G>A (hg19) ; chr1:g.39965492G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965492G>A , CM000663.2:g.39965492G>A	GRCh38
NC_000001.10:g.40431164G>A , CM000663.1:g.40431164G>A	GRCh37
NC_000001.9:g.40203751G>A	NCBI36
NG_053084.1:g.15381G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.499G>A MANE Select	ENSP00000361898.6:p.Ala167Thr
ENST00000372809.5:c.538G>A	ENSP00000361895.5:p.Ala180Thr
ENST00000372811.9:c.499G>A	ENSP00000361898.5:p.Ala167Thr
ENST00000420632.6:c.31G>A	ENSP00000391261.2:p.Ala11Thr
ENST00000434861.5:c.493G>A	ENSP00000407606.1:p.Ala165Thr
ENST00000469745.5:n.411G>A
ENST00000480630.5:n.1146G>A
ENST00000483824.5:n.634G>A
NM_001136493.2:c.538G>A	NP_001129965.1:p.Ala180Thr
NM_001287808.1:c.31G>A	NP_001274737.1:p.Ala11Thr
NM_001287809.1:c.388G>A	NP_001274738.1:p.Ala130Thr
NM_032793.4:c.499G>A	NP_116182.2:p.Ala167Thr
NR_109896.1:n.680G>A
XM_005271285.1:c.493G>A	XP_005271342.1:p.Ala165Thr
XM_011542312.1:c.499G>A	XP_011540614.1:p.Ala167Thr
XR_946783.1:n.647G>A
NM_001349821.1:c.493G>A	NP_001336750.1:p.Ala165Thr
NM_001349822.1:c.499G>A	NP_001336751.1:p.Ala167Thr
NM_001349823.1:c.154G>A	NP_001336752.1:p.Ala52Thr
NM_001136493.3:c.538G>A	NP_001129965.1:p.Ala180Thr
NM_001287809.2:c.388G>A	NP_001274738.1:p.Ala130Thr
NM_001349821.2:c.493G>A	NP_001336750.1:p.Ala165Thr
NM_001349822.2:c.499G>A	NP_001336751.1:p.Ala167Thr
NM_001349823.2:c.154G>A	NP_001336752.1:p.Ala52Thr
NM_032793.5:c.499G>A MANE Select	NP_116182.2:p.Ala167Thr
NR_109896.2:n.647G>A
NM_001287808.2:c.31G>A	NP_001274737.1:p.Ala11Thr