Canonical Allele Identifier: CA21014500

Gene: MFSD2A

Linked Data

• ClinVar Variation Id: 1907452
• ClinVar RCV Id: RCV002578248
• dbSNP Id: rs993901548
• MyVariant Identifiers: chr1:g.40431235G>C (hg19) ; chr1:g.39965563G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965563G>C , CM000663.2:g.39965563G>C	GRCh38
NC_000001.10:g.40431235G>C , CM000663.1:g.40431235G>C	GRCh37
NC_000001.9:g.40203822G>C	NCBI36
NG_053084.1:g.15452G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.556+14G>C MANE Select	ENSP00000361898.6:n.556+14G>C
ENST00000372809.5:c.595+14G>C	ENSP00000361895.5:n.595+14G>C
ENST00000372811.9:c.556+14G>C	ENSP00000361898.5:n.556+14G>C
ENST00000420632.6:c.88+14G>C	ENSP00000391261.2:n.88+14G>C
ENST00000434861.5:c.550+14G>C	ENSP00000407606.1:n.550+14G>C
ENST00000469745.5:n.468+14G>C
ENST00000480630.5:n.1203+14G>C
ENST00000483824.5:n.691+14G>C
NM_001136493.2:c.595+14G>C	NP_001129965.1:n.595+14G>C
NM_001287808.1:c.88+14G>C	NP_001274737.1:n.88+14G>C
NM_001287809.1:c.445+14G>C	NP_001274738.1:n.445+14G>C
NM_032793.4:c.556+14G>C	NP_116182.2:n.556+14G>C
NR_109896.1:n.737+14G>C
XM_005271285.1:c.550+14G>C	XP_005271342.1:n.550+14G>C
XM_011542312.1:c.556+14G>C	XP_011540614.1:n.556+14G>C
XR_946783.1:n.704+14G>C
NM_001349821.1:c.550+14G>C	NP_001336750.1:n.550+14G>C
NM_001349822.1:c.556+14G>C	NP_001336751.1:n.556+14G>C
NM_001349823.1:c.211+14G>C	NP_001336752.1:n.211+14G>C
NM_001136493.3:c.595+14G>C	NP_001129965.1:n.595+14G>C
NM_001287809.2:c.445+14G>C	NP_001274738.1:n.445+14G>C
NM_001349821.2:c.550+14G>C	NP_001336750.1:n.550+14G>C
NM_001349822.2:c.556+14G>C	NP_001336751.1:n.556+14G>C
NM_001349823.2:c.211+14G>C	NP_001336752.1:n.211+14G>C
NM_032793.5:c.556+14G>C MANE Select	NP_116182.2:n.556+14G>C
NR_109896.2:n.704+14G>C
NM_001287808.2:c.88+14G>C	NP_001274737.1:n.88+14G>C