Canonical Allele Identifier: CA788663

Gene: MFSD2A

Linked Data

• dbSNP Id: rs777990287
• ExAC: 1:40431105 A / C
• gnomAD v2: 1-40431105-A-C
• gnomAD v3: 1-39965433-A-C
• gnomAD v4: 1-39965433-A-C
• MyVariant Identifiers: chr1:g.40431105A>C (hg19) ; chr1:g.39965433A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965433A>C , CM000663.2:g.39965433A>C	GRCh38
NC_000001.10:g.40431105A>C , CM000663.1:g.40431105A>C	GRCh37
NC_000001.9:g.40203692A>C	NCBI36
NG_053084.1:g.15322A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.478-38A>C MANE Select	ENSP00000361898.6:n.478-38A>C
ENST00000372809.5:c.517-38A>C	ENSP00000361895.5:n.517-38A>C
ENST00000372811.9:c.478-38A>C	ENSP00000361898.5:n.478-38A>C
ENST00000420632.6:c.10-38A>C	ENSP00000391261.2:n.10-38A>C
ENST00000434861.5:c.472-38A>C	ENSP00000407606.1:n.472-38A>C
ENST00000469745.5:n.390-38A>C
ENST00000480630.5:n.1125-38A>C
ENST00000483824.5:n.613-38A>C
NM_001136493.2:c.517-38A>C	NP_001129965.1:n.517-38A>C
NM_001287808.1:c.10-38A>C	NP_001274737.1:n.10-38A>C
NM_001287809.1:c.367-38A>C	NP_001274738.1:n.367-38A>C
NM_032793.4:c.478-38A>C	NP_116182.2:n.478-38A>C
NR_109896.1:n.659-38A>C
XM_005271285.1:c.472-38A>C	XP_005271342.1:n.472-38A>C
XM_011542312.1:c.478-38A>C	XP_011540614.1:n.478-38A>C
XR_946783.1:n.626-38A>C
NM_001349821.1:c.472-38A>C	NP_001336750.1:n.472-38A>C
NM_001349822.1:c.478-38A>C	NP_001336751.1:n.478-38A>C
NM_001349823.1:c.133-38A>C	NP_001336752.1:n.133-38A>C
NM_001136493.3:c.517-38A>C	NP_001129965.1:n.517-38A>C
NM_001287809.2:c.367-38A>C	NP_001274738.1:n.367-38A>C
NM_001349821.2:c.472-38A>C	NP_001336750.1:n.472-38A>C
NM_001349822.2:c.478-38A>C	NP_001336751.1:n.478-38A>C
NM_001349823.2:c.133-38A>C	NP_001336752.1:n.133-38A>C
NM_032793.5:c.478-38A>C MANE Select	NP_116182.2:n.478-38A>C
NR_109896.2:n.626-38A>C
NM_001287808.2:c.10-38A>C	NP_001274737.1:n.10-38A>C