Canonical Allele Identifier: CA339835006

Gene: MFSD2A

Linked Data

• dbSNP Id: rs1337554400
• gnomAD v2: 1-40431200-C-T
• gnomAD v3: 1-39965528-C-T
• gnomAD v4: 1-39965528-C-T
• MyVariant Identifiers: chr1:g.40431200C>T (hg19) ; chr1:g.39965528C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965528C>T , CM000663.2:g.39965528C>T	GRCh38
NC_000001.10:g.40431200C>T , CM000663.1:g.40431200C>T	GRCh37
NC_000001.9:g.40203787C>T	NCBI36
NG_053084.1:g.15417C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.535C>T MANE Select	ENSP00000361898.6:p.Arg179Trp
ENST00000372809.5:c.574C>T	ENSP00000361895.5:p.Arg192Trp
ENST00000372811.9:c.535C>T	ENSP00000361898.5:p.Arg179Trp
ENST00000420632.6:c.67C>T	ENSP00000391261.2:p.Arg23Trp
ENST00000434861.5:c.529C>T	ENSP00000407606.1:p.Arg177Trp
ENST00000469745.5:n.447C>T
ENST00000480630.5:n.1182C>T
ENST00000483824.5:n.670C>T
NM_001136493.2:c.574C>T	NP_001129965.1:p.Arg192Trp
NM_001287808.1:c.67C>T	NP_001274737.1:p.Arg23Trp
NM_001287809.1:c.424C>T	NP_001274738.1:p.Arg142Trp
NM_032793.4:c.535C>T	NP_116182.2:p.Arg179Trp
NR_109896.1:n.716C>T
XM_005271285.1:c.529C>T	XP_005271342.1:p.Arg177Trp
XM_011542312.1:c.535C>T	XP_011540614.1:p.Arg179Trp
XR_946783.1:n.683C>T
NM_001349821.1:c.529C>T	NP_001336750.1:p.Arg177Trp
NM_001349822.1:c.535C>T	NP_001336751.1:p.Arg179Trp
NM_001349823.1:c.190C>T	NP_001336752.1:p.Arg64Trp
NM_001136493.3:c.574C>T	NP_001129965.1:p.Arg192Trp
NM_001287809.2:c.424C>T	NP_001274738.1:p.Arg142Trp
NM_001349821.2:c.529C>T	NP_001336750.1:p.Arg177Trp
NM_001349822.2:c.535C>T	NP_001336751.1:p.Arg179Trp
NM_001349823.2:c.190C>T	NP_001336752.1:p.Arg64Trp
NM_032793.5:c.535C>T MANE Select	NP_116182.2:p.Arg179Trp
NR_109896.2:n.683C>T
NM_001287808.2:c.67C>T	NP_001274737.1:p.Arg23Trp