Canonical Allele Identifier: CA339835122

Gene: MFSD2A

Linked Data

• MyVariant Identifiers: chr1:g.40431218T>A (hg19) ; chr1:g.39965546T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965546T>A , CM000663.2:g.39965546T>A	GRCh38
NC_000001.10:g.40431218T>A , CM000663.1:g.40431218T>A	GRCh37
NC_000001.9:g.40203805T>A	NCBI36
NG_053084.1:g.15435T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.553T>A MANE Select	ENSP00000361898.6:p.Tyr185Asn
ENST00000372809.5:c.592T>A	ENSP00000361895.5:p.Tyr198Asn
ENST00000372811.9:c.553T>A	ENSP00000361898.5:p.Tyr185Asn
ENST00000420632.6:c.85T>A	ENSP00000391261.2:p.Tyr29Asn
ENST00000434861.5:c.547T>A	ENSP00000407606.1:p.Tyr183Asn
ENST00000469745.5:n.465T>A
ENST00000480630.5:n.1200T>A
ENST00000483824.5:n.688T>A
NM_001136493.2:c.592T>A	NP_001129965.1:p.Tyr198Asn
NM_001287808.1:c.85T>A	NP_001274737.1:p.Tyr29Asn
NM_001287809.1:c.442T>A	NP_001274738.1:p.Tyr148Asn
NM_032793.4:c.553T>A	NP_116182.2:p.Tyr185Asn
NR_109896.1:n.734T>A
XM_005271285.1:c.547T>A	XP_005271342.1:p.Tyr183Asn
XM_011542312.1:c.553T>A	XP_011540614.1:p.Tyr185Asn
XR_946783.1:n.701T>A
NM_001349821.1:c.547T>A	NP_001336750.1:p.Tyr183Asn
NM_001349822.1:c.553T>A	NP_001336751.1:p.Tyr185Asn
NM_001349823.1:c.208T>A	NP_001336752.1:p.Tyr70Asn
NM_001136493.3:c.592T>A	NP_001129965.1:p.Tyr198Asn
NM_001287809.2:c.442T>A	NP_001274738.1:p.Tyr148Asn
NM_001349821.2:c.547T>A	NP_001336750.1:p.Tyr183Asn
NM_001349822.2:c.553T>A	NP_001336751.1:p.Tyr185Asn
NM_001349823.2:c.208T>A	NP_001336752.1:p.Tyr70Asn
NM_032793.5:c.553T>A MANE Select	NP_116182.2:p.Tyr185Asn
NR_109896.2:n.701T>A
NM_001287808.2:c.85T>A	NP_001274737.1:p.Tyr29Asn