Canonical Allele Identifier: CA339834810

Gene: MFSD2A

Linked Data

• MyVariant Identifiers: chr1:g.40431175G>C (hg19) ; chr1:g.39965503G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965503G>C , CM000663.2:g.39965503G>C	GRCh38
NC_000001.10:g.40431175G>C , CM000663.1:g.40431175G>C	GRCh37
NC_000001.9:g.40203762G>C	NCBI36
NG_053084.1:g.15392G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.510G>C MANE Select	ENSP00000361898.6:p.Met170Ile
ENST00000372809.5:c.549G>C	ENSP00000361895.5:p.Met183Ile
ENST00000372811.9:c.510G>C	ENSP00000361898.5:p.Met170Ile
ENST00000420632.6:c.42G>C	ENSP00000391261.2:p.Met14Ile
ENST00000434861.5:c.504G>C	ENSP00000407606.1:p.Met168Ile
ENST00000469745.5:n.422G>C
ENST00000480630.5:n.1157G>C
ENST00000483824.5:n.645G>C
NM_001136493.2:c.549G>C	NP_001129965.1:p.Met183Ile
NM_001287808.1:c.42G>C	NP_001274737.1:p.Met14Ile
NM_001287809.1:c.399G>C	NP_001274738.1:p.Met133Ile
NM_032793.4:c.510G>C	NP_116182.2:p.Met170Ile
NR_109896.1:n.691G>C
XM_005271285.1:c.504G>C	XP_005271342.1:p.Met168Ile
XM_011542312.1:c.510G>C	XP_011540614.1:p.Met170Ile
XR_946783.1:n.658G>C
NM_001349821.1:c.504G>C	NP_001336750.1:p.Met168Ile
NM_001349822.1:c.510G>C	NP_001336751.1:p.Met170Ile
NM_001349823.1:c.165G>C	NP_001336752.1:p.Met55Ile
NM_001136493.3:c.549G>C	NP_001129965.1:p.Met183Ile
NM_001287809.2:c.399G>C	NP_001274738.1:p.Met133Ile
NM_001349821.2:c.504G>C	NP_001336750.1:p.Met168Ile
NM_001349822.2:c.510G>C	NP_001336751.1:p.Met170Ile
NM_001349823.2:c.165G>C	NP_001336752.1:p.Met55Ile
NM_032793.5:c.510G>C MANE Select	NP_116182.2:p.Met170Ile
NR_109896.2:n.658G>C
NM_001287808.2:c.42G>C	NP_001274737.1:p.Met14Ile