Canonical Allele Identifier: CA339835053

Gene: MFSD2A

Linked Data

• gnomAD v4: 1-39965535-C-T
• MyVariant Identifiers: chr1:g.40431207C>T (hg19) ; chr1:g.39965535C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965535C>T , CM000663.2:g.39965535C>T	GRCh38
NC_000001.10:g.40431207C>T , CM000663.1:g.40431207C>T	GRCh37
NC_000001.9:g.40203794C>T	NCBI36
NG_053084.1:g.15424C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.542C>T MANE Select	ENSP00000361898.6:p.Ser181Phe
ENST00000372809.5:c.581C>T	ENSP00000361895.5:p.Ser194Phe
ENST00000372811.9:c.542C>T	ENSP00000361898.5:p.Ser181Phe
ENST00000420632.6:c.74C>T	ENSP00000391261.2:p.Ser25Phe
ENST00000434861.5:c.536C>T	ENSP00000407606.1:p.Ser179Phe
ENST00000469745.5:n.454C>T
ENST00000480630.5:n.1189C>T
ENST00000483824.5:n.677C>T
NM_001136493.2:c.581C>T	NP_001129965.1:p.Ser194Phe
NM_001287808.1:c.74C>T	NP_001274737.1:p.Ser25Phe
NM_001287809.1:c.431C>T	NP_001274738.1:p.Ser144Phe
NM_032793.4:c.542C>T	NP_116182.2:p.Ser181Phe
NR_109896.1:n.723C>T
XM_005271285.1:c.536C>T	XP_005271342.1:p.Ser179Phe
XM_011542312.1:c.542C>T	XP_011540614.1:p.Ser181Phe
XR_946783.1:n.690C>T
NM_001349821.1:c.536C>T	NP_001336750.1:p.Ser179Phe
NM_001349822.1:c.542C>T	NP_001336751.1:p.Ser181Phe
NM_001349823.1:c.197C>T	NP_001336752.1:p.Ser66Phe
NM_001136493.3:c.581C>T	NP_001129965.1:p.Ser194Phe
NM_001287809.2:c.431C>T	NP_001274738.1:p.Ser144Phe
NM_001349821.2:c.536C>T	NP_001336750.1:p.Ser179Phe
NM_001349822.2:c.542C>T	NP_001336751.1:p.Ser181Phe
NM_001349823.2:c.197C>T	NP_001336752.1:p.Ser66Phe
NM_032793.5:c.542C>T MANE Select	NP_116182.2:p.Ser181Phe
NR_109896.2:n.690C>T
NM_001287808.2:c.74C>T	NP_001274737.1:p.Ser25Phe