Canonical Allele Identifier: CA339834840

Gene: MFSD2A

Linked Data

• MyVariant Identifiers: chr1:g.40431179A>T (hg19) ; chr1:g.39965507A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965507A>T , CM000663.2:g.39965507A>T	GRCh38
NC_000001.10:g.40431179A>T , CM000663.1:g.40431179A>T	GRCh37
NC_000001.9:g.40203766A>T	NCBI36
NG_053084.1:g.15396A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.514A>T MANE Select	ENSP00000361898.6:p.Ile172Phe
ENST00000372809.5:c.553A>T	ENSP00000361895.5:p.Ile185Phe
ENST00000372811.9:c.514A>T	ENSP00000361898.5:p.Ile172Phe
ENST00000420632.6:c.46A>T	ENSP00000391261.2:p.Ile16Phe
ENST00000434861.5:c.508A>T	ENSP00000407606.1:p.Ile170Phe
ENST00000469745.5:n.426A>T
ENST00000480630.5:n.1161A>T
ENST00000483824.5:n.649A>T
NM_001136493.2:c.553A>T	NP_001129965.1:p.Ile185Phe
NM_001287808.1:c.46A>T	NP_001274737.1:p.Ile16Phe
NM_001287809.1:c.403A>T	NP_001274738.1:p.Ile135Phe
NM_032793.4:c.514A>T	NP_116182.2:p.Ile172Phe
NR_109896.1:n.695A>T
XM_005271285.1:c.508A>T	XP_005271342.1:p.Ile170Phe
XM_011542312.1:c.514A>T	XP_011540614.1:p.Ile172Phe
XR_946783.1:n.662A>T
NM_001349821.1:c.508A>T	NP_001336750.1:p.Ile170Phe
NM_001349822.1:c.514A>T	NP_001336751.1:p.Ile172Phe
NM_001349823.1:c.169A>T	NP_001336752.1:p.Ile57Phe
NM_001136493.3:c.553A>T	NP_001129965.1:p.Ile185Phe
NM_001287809.2:c.403A>T	NP_001274738.1:p.Ile135Phe
NM_001349821.2:c.508A>T	NP_001336750.1:p.Ile170Phe
NM_001349822.2:c.514A>T	NP_001336751.1:p.Ile172Phe
NM_001349823.2:c.169A>T	NP_001336752.1:p.Ile57Phe
NM_032793.5:c.514A>T MANE Select	NP_116182.2:p.Ile172Phe
NR_109896.2:n.662A>T
NM_001287808.2:c.46A>T	NP_001274737.1:p.Ile16Phe