Canonical Allele Identifier: CA339835110

Gene: MFSD2A

Linked Data

• MyVariant Identifiers: chr1:g.40431216C>G (hg19) ; chr1:g.39965544C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965544C>G , CM000663.2:g.39965544C>G	GRCh38
NC_000001.10:g.40431216C>G , CM000663.1:g.40431216C>G	GRCh37
NC_000001.9:g.40203803C>G	NCBI36
NG_053084.1:g.15433C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.551C>G MANE Select	ENSP00000361898.6:p.Ala184Gly
ENST00000372809.5:c.590C>G	ENSP00000361895.5:p.Ala197Gly
ENST00000372811.9:c.551C>G	ENSP00000361898.5:p.Ala184Gly
ENST00000420632.6:c.83C>G	ENSP00000391261.2:p.Ala28Gly
ENST00000434861.5:c.545C>G	ENSP00000407606.1:p.Ala182Gly
ENST00000469745.5:n.463C>G
ENST00000480630.5:n.1198C>G
ENST00000483824.5:n.686C>G
NM_001136493.2:c.590C>G	NP_001129965.1:p.Ala197Gly
NM_001287808.1:c.83C>G	NP_001274737.1:p.Ala28Gly
NM_001287809.1:c.440C>G	NP_001274738.1:p.Ala147Gly
NM_032793.4:c.551C>G	NP_116182.2:p.Ala184Gly
NR_109896.1:n.732C>G
XM_005271285.1:c.545C>G	XP_005271342.1:p.Ala182Gly
XM_011542312.1:c.551C>G	XP_011540614.1:p.Ala184Gly
XR_946783.1:n.699C>G
NM_001349821.1:c.545C>G	NP_001336750.1:p.Ala182Gly
NM_001349822.1:c.551C>G	NP_001336751.1:p.Ala184Gly
NM_001349823.1:c.206C>G	NP_001336752.1:p.Ala69Gly
NM_001136493.3:c.590C>G	NP_001129965.1:p.Ala197Gly
NM_001287809.2:c.440C>G	NP_001274738.1:p.Ala147Gly
NM_001349821.2:c.545C>G	NP_001336750.1:p.Ala182Gly
NM_001349822.2:c.551C>G	NP_001336751.1:p.Ala184Gly
NM_001349823.2:c.206C>G	NP_001336752.1:p.Ala69Gly
NM_032793.5:c.551C>G MANE Select	NP_116182.2:p.Ala184Gly
NR_109896.2:n.699C>G
NM_001287808.2:c.83C>G	NP_001274737.1:p.Ala28Gly