Canonical Allele Identifier: CA339835013

Gene: MFSD2A

Linked Data

• MyVariant Identifiers: chr1:g.40431201G>T (hg19) ; chr1:g.39965529G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965529G>T , CM000663.2:g.39965529G>T	GRCh38
NC_000001.10:g.40431201G>T , CM000663.1:g.40431201G>T	GRCh37
NC_000001.9:g.40203788G>T	NCBI36
NG_053084.1:g.15418G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.536G>T MANE Select	ENSP00000361898.6:p.Arg179Leu
ENST00000372809.5:c.575G>T	ENSP00000361895.5:p.Arg192Leu
ENST00000372811.9:c.536G>T	ENSP00000361898.5:p.Arg179Leu
ENST00000420632.6:c.68G>T	ENSP00000391261.2:p.Arg23Leu
ENST00000434861.5:c.530G>T	ENSP00000407606.1:p.Arg177Leu
ENST00000469745.5:n.448G>T
ENST00000480630.5:n.1183G>T
ENST00000483824.5:n.671G>T
NM_001136493.2:c.575G>T	NP_001129965.1:p.Arg192Leu
NM_001287808.1:c.68G>T	NP_001274737.1:p.Arg23Leu
NM_001287809.1:c.425G>T	NP_001274738.1:p.Arg142Leu
NM_032793.4:c.536G>T	NP_116182.2:p.Arg179Leu
NR_109896.1:n.717G>T
XM_005271285.1:c.530G>T	XP_005271342.1:p.Arg177Leu
XM_011542312.1:c.536G>T	XP_011540614.1:p.Arg179Leu
XR_946783.1:n.684G>T
NM_001349821.1:c.530G>T	NP_001336750.1:p.Arg177Leu
NM_001349822.1:c.536G>T	NP_001336751.1:p.Arg179Leu
NM_001349823.1:c.191G>T	NP_001336752.1:p.Arg64Leu
NM_001136493.3:c.575G>T	NP_001129965.1:p.Arg192Leu
NM_001287809.2:c.425G>T	NP_001274738.1:p.Arg142Leu
NM_001349821.2:c.530G>T	NP_001336750.1:p.Arg177Leu
NM_001349822.2:c.536G>T	NP_001336751.1:p.Arg179Leu
NM_001349823.2:c.191G>T	NP_001336752.1:p.Arg64Leu
NM_032793.5:c.536G>T MANE Select	NP_116182.2:p.Arg179Leu
NR_109896.2:n.684G>T
NM_001287808.2:c.68G>T	NP_001274737.1:p.Arg23Leu