Canonical Allele Identifier: CA339835113

Gene: MFSD2A

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.551C>T MANE Select	ENSP00000361898.6:p.Ala184Val
ENST00000372809.5:c.590C>T	ENSP00000361895.5:p.Ala197Val
ENST00000372811.9:c.551C>T	ENSP00000361898.5:p.Ala184Val
ENST00000420632.6:c.83C>T	ENSP00000391261.2:p.Ala28Val
ENST00000434861.5:c.545C>T	ENSP00000407606.1:p.Ala182Val
ENST00000469745.5:n.463C>T
ENST00000480630.5:n.1198C>T
ENST00000483824.5:n.686C>T
NM_001136493.2:c.590C>T	NP_001129965.1:p.Ala197Val
NM_001287808.1:c.83C>T	NP_001274737.1:p.Ala28Val
NM_001287809.1:c.440C>T	NP_001274738.1:p.Ala147Val
NM_032793.4:c.551C>T	NP_116182.2:p.Ala184Val
NR_109896.1:n.732C>T
XM_005271285.1:c.545C>T	XP_005271342.1:p.Ala182Val
XM_011542312.1:c.551C>T	XP_011540614.1:p.Ala184Val
XR_946783.1:n.699C>T
NM_001349821.1:c.545C>T	NP_001336750.1:p.Ala182Val
NM_001349822.1:c.551C>T	NP_001336751.1:p.Ala184Val
NM_001349823.1:c.206C>T	NP_001336752.1:p.Ala69Val
NM_001136493.3:c.590C>T	NP_001129965.1:p.Ala197Val
NM_001287809.2:c.440C>T	NP_001274738.1:p.Ala147Val
NM_001349821.2:c.545C>T	NP_001336750.1:p.Ala182Val
NM_001349822.2:c.551C>T	NP_001336751.1:p.Ala184Val
NM_001349823.2:c.206C>T	NP_001336752.1:p.Ala69Val
NM_032793.5:c.551C>T MANE Select	NP_116182.2:p.Ala184Val
NR_109896.2:n.699C>T
NM_001287808.2:c.83C>T	NP_001274737.1:p.Ala28Val