Canonical Allele Identifier: CA339835132

Gene: MFSD2A

Linked Data

• MyVariant Identifiers: chr1:g.40431219A>C (hg19) ; chr1:g.39965547A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965547A>C , CM000663.2:g.39965547A>C	GRCh38
NC_000001.10:g.40431219A>C , CM000663.1:g.40431219A>C	GRCh37
NC_000001.9:g.40203806A>C	NCBI36
NG_053084.1:g.15436A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.554A>C MANE Select	ENSP00000361898.6:p.Tyr185Ser
ENST00000372809.5:c.593A>C	ENSP00000361895.5:p.Tyr198Ser
ENST00000372811.9:c.554A>C	ENSP00000361898.5:p.Tyr185Ser
ENST00000420632.6:c.86A>C	ENSP00000391261.2:p.Tyr29Ser
ENST00000434861.5:c.548A>C	ENSP00000407606.1:p.Tyr183Ser
ENST00000469745.5:n.466A>C
ENST00000480630.5:n.1201A>C
ENST00000483824.5:n.689A>C
NM_001136493.2:c.593A>C	NP_001129965.1:p.Tyr198Ser
NM_001287808.1:c.86A>C	NP_001274737.1:p.Tyr29Ser
NM_001287809.1:c.443A>C	NP_001274738.1:p.Tyr148Ser
NM_032793.4:c.554A>C	NP_116182.2:p.Tyr185Ser
NR_109896.1:n.735A>C
XM_005271285.1:c.548A>C	XP_005271342.1:p.Tyr183Ser
XM_011542312.1:c.554A>C	XP_011540614.1:p.Tyr185Ser
XR_946783.1:n.702A>C
NM_001349821.1:c.548A>C	NP_001336750.1:p.Tyr183Ser
NM_001349822.1:c.554A>C	NP_001336751.1:p.Tyr185Ser
NM_001349823.1:c.209A>C	NP_001336752.1:p.Tyr70Ser
NM_001136493.3:c.593A>C	NP_001129965.1:p.Tyr198Ser
NM_001287809.2:c.443A>C	NP_001274738.1:p.Tyr148Ser
NM_001349821.2:c.548A>C	NP_001336750.1:p.Tyr183Ser
NM_001349822.2:c.554A>C	NP_001336751.1:p.Tyr185Ser
NM_001349823.2:c.209A>C	NP_001336752.1:p.Tyr70Ser
NM_032793.5:c.554A>C MANE Select	NP_116182.2:p.Tyr185Ser
NR_109896.2:n.702A>C
NM_001287808.2:c.86A>C	NP_001274737.1:p.Tyr29Ser