Canonical Allele Identifier: CA339834844

Gene: MFSD2A

Linked Data

• MyVariant Identifiers: chr1:g.40431180T>G (hg19) ; chr1:g.39965508T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965508T>G , CM000663.2:g.39965508T>G	GRCh38
NC_000001.10:g.40431180T>G , CM000663.1:g.40431180T>G	GRCh37
NC_000001.9:g.40203767T>G	NCBI36
NG_053084.1:g.15397T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.515T>G MANE Select	ENSP00000361898.6:p.Ile172Ser
ENST00000372809.5:c.554T>G	ENSP00000361895.5:p.Ile185Ser
ENST00000372811.9:c.515T>G	ENSP00000361898.5:p.Ile172Ser
ENST00000420632.6:c.47T>G	ENSP00000391261.2:p.Ile16Ser
ENST00000434861.5:c.509T>G	ENSP00000407606.1:p.Ile170Ser
ENST00000469745.5:n.427T>G
ENST00000480630.5:n.1162T>G
ENST00000483824.5:n.650T>G
NM_001136493.2:c.554T>G	NP_001129965.1:p.Ile185Ser
NM_001287808.1:c.47T>G	NP_001274737.1:p.Ile16Ser
NM_001287809.1:c.404T>G	NP_001274738.1:p.Ile135Ser
NM_032793.4:c.515T>G	NP_116182.2:p.Ile172Ser
NR_109896.1:n.696T>G
XM_005271285.1:c.509T>G	XP_005271342.1:p.Ile170Ser
XM_011542312.1:c.515T>G	XP_011540614.1:p.Ile172Ser
XR_946783.1:n.663T>G
NM_001349821.1:c.509T>G	NP_001336750.1:p.Ile170Ser
NM_001349822.1:c.515T>G	NP_001336751.1:p.Ile172Ser
NM_001349823.1:c.170T>G	NP_001336752.1:p.Ile57Ser
NM_001136493.3:c.554T>G	NP_001129965.1:p.Ile185Ser
NM_001287809.2:c.404T>G	NP_001274738.1:p.Ile135Ser
NM_001349821.2:c.509T>G	NP_001336750.1:p.Ile170Ser
NM_001349822.2:c.515T>G	NP_001336751.1:p.Ile172Ser
NM_001349823.2:c.170T>G	NP_001336752.1:p.Ile57Ser
NM_032793.5:c.515T>G MANE Select	NP_116182.2:p.Ile172Ser
NR_109896.2:n.663T>G
NM_001287808.2:c.47T>G	NP_001274737.1:p.Ile16Ser