Canonical Allele Identifier: CA339835124

Gene: MFSD2A

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.553T>C MANE Select	ENSP00000361898.6:p.Tyr185His
ENST00000372809.5:c.592T>C	ENSP00000361895.5:p.Tyr198His
ENST00000372811.9:c.553T>C	ENSP00000361898.5:p.Tyr185His
ENST00000420632.6:c.85T>C	ENSP00000391261.2:p.Tyr29His
ENST00000434861.5:c.547T>C	ENSP00000407606.1:p.Tyr183His
ENST00000469745.5:n.465T>C
ENST00000480630.5:n.1200T>C
ENST00000483824.5:n.688T>C
NM_001136493.2:c.592T>C	NP_001129965.1:p.Tyr198His
NM_001287808.1:c.85T>C	NP_001274737.1:p.Tyr29His
NM_001287809.1:c.442T>C	NP_001274738.1:p.Tyr148His
NM_032793.4:c.553T>C	NP_116182.2:p.Tyr185His
NR_109896.1:n.734T>C
XM_005271285.1:c.547T>C	XP_005271342.1:p.Tyr183His
XM_011542312.1:c.553T>C	XP_011540614.1:p.Tyr185His
XR_946783.1:n.701T>C
NM_001349821.1:c.547T>C	NP_001336750.1:p.Tyr183His
NM_001349822.1:c.553T>C	NP_001336751.1:p.Tyr185His
NM_001349823.1:c.208T>C	NP_001336752.1:p.Tyr70His
NM_001136493.3:c.592T>C	NP_001129965.1:p.Tyr198His
NM_001287809.2:c.442T>C	NP_001274738.1:p.Tyr148His
NM_001349821.2:c.547T>C	NP_001336750.1:p.Tyr183His
NM_001349822.2:c.553T>C	NP_001336751.1:p.Tyr185His
NM_001349823.2:c.208T>C	NP_001336752.1:p.Tyr70His
NM_032793.5:c.553T>C MANE Select	NP_116182.2:p.Tyr185His
NR_109896.2:n.701T>C
NM_001287808.2:c.85T>C	NP_001274737.1:p.Tyr29His