Canonical Allele Identifier: CA339834816

Gene: MFSD2A

Linked Data

• MyVariant Identifiers: chr1:g.40431176T>C (hg19) ; chr1:g.39965504T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965504T>C , CM000663.2:g.39965504T>C	GRCh38
NC_000001.10:g.40431176T>C , CM000663.1:g.40431176T>C	GRCh37
NC_000001.9:g.40203763T>C	NCBI36
NG_053084.1:g.15393T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.511T>C MANE Select	ENSP00000361898.6:p.Phe171Leu
ENST00000372809.5:c.550T>C	ENSP00000361895.5:p.Phe184Leu
ENST00000372811.9:c.511T>C	ENSP00000361898.5:p.Phe171Leu
ENST00000420632.6:c.43T>C	ENSP00000391261.2:p.Phe15Leu
ENST00000434861.5:c.505T>C	ENSP00000407606.1:p.Phe169Leu
ENST00000469745.5:n.423T>C
ENST00000480630.5:n.1158T>C
ENST00000483824.5:n.646T>C
NM_001136493.2:c.550T>C	NP_001129965.1:p.Phe184Leu
NM_001287808.1:c.43T>C	NP_001274737.1:p.Phe15Leu
NM_001287809.1:c.400T>C	NP_001274738.1:p.Phe134Leu
NM_032793.4:c.511T>C	NP_116182.2:p.Phe171Leu
NR_109896.1:n.692T>C
XM_005271285.1:c.505T>C	XP_005271342.1:p.Phe169Leu
XM_011542312.1:c.511T>C	XP_011540614.1:p.Phe171Leu
XR_946783.1:n.659T>C
NM_001349821.1:c.505T>C	NP_001336750.1:p.Phe169Leu
NM_001349822.1:c.511T>C	NP_001336751.1:p.Phe171Leu
NM_001349823.1:c.166T>C	NP_001336752.1:p.Phe56Leu
NM_001136493.3:c.550T>C	NP_001129965.1:p.Phe184Leu
NM_001287809.2:c.400T>C	NP_001274738.1:p.Phe134Leu
NM_001349821.2:c.505T>C	NP_001336750.1:p.Phe169Leu
NM_001349822.2:c.511T>C	NP_001336751.1:p.Phe171Leu
NM_001349823.2:c.166T>C	NP_001336752.1:p.Phe56Leu
NM_032793.5:c.511T>C MANE Select	NP_116182.2:p.Phe171Leu
NR_109896.2:n.659T>C
NM_001287808.2:c.43T>C	NP_001274737.1:p.Phe15Leu