Canonical Allele Identifier: CA339834884

Gene: MFSD2A

Linked Data

• ClinVar Variation Id: 1716900
• ClinVar RCV Id: RCV002296117
• MyVariant Identifiers: chr1:g.40431186C>T (hg19) ; chr1:g.39965514C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965514C>T , CM000663.2:g.39965514C>T	GRCh38
NC_000001.10:g.40431186C>T , CM000663.1:g.40431186C>T	GRCh37
NC_000001.9:g.40203773C>T	NCBI36
NG_053084.1:g.15403C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.521C>T MANE Select	ENSP00000361898.6:p.Thr174Ile
ENST00000372809.5:c.560C>T	ENSP00000361895.5:p.Thr187Ile
ENST00000372811.9:c.521C>T	ENSP00000361898.5:p.Thr174Ile
ENST00000420632.6:c.53C>T	ENSP00000391261.2:p.Thr18Ile
ENST00000434861.5:c.515C>T	ENSP00000407606.1:p.Thr172Ile
ENST00000469745.5:n.433C>T
ENST00000480630.5:n.1168C>T
ENST00000483824.5:n.656C>T
NM_001136493.2:c.560C>T	NP_001129965.1:p.Thr187Ile
NM_001287808.1:c.53C>T	NP_001274737.1:p.Thr18Ile
NM_001287809.1:c.410C>T	NP_001274738.1:p.Thr137Ile
NM_032793.4:c.521C>T	NP_116182.2:p.Thr174Ile
NR_109896.1:n.702C>T
XM_005271285.1:c.515C>T	XP_005271342.1:p.Thr172Ile
XM_011542312.1:c.521C>T	XP_011540614.1:p.Thr174Ile
XR_946783.1:n.669C>T
NM_001349821.1:c.515C>T	NP_001336750.1:p.Thr172Ile
NM_001349822.1:c.521C>T	NP_001336751.1:p.Thr174Ile
NM_001349823.1:c.176C>T	NP_001336752.1:p.Thr59Ile
NM_001136493.3:c.560C>T	NP_001129965.1:p.Thr187Ile
NM_001287809.2:c.410C>T	NP_001274738.1:p.Thr137Ile
NM_001349821.2:c.515C>T	NP_001336750.1:p.Thr172Ile
NM_001349822.2:c.521C>T	NP_001336751.1:p.Thr174Ile
NM_001349823.2:c.176C>T	NP_001336752.1:p.Thr59Ile
NM_032793.5:c.521C>T MANE Select	NP_116182.2:p.Thr174Ile
NR_109896.2:n.669C>T
NM_001287808.2:c.53C>T	NP_001274737.1:p.Thr18Ile