Canonical Allele Identifier: CA339835066

Gene: MFSD2A

Linked Data

• gnomAD v4: 1-39965537-G-T
• MyVariant Identifiers: chr1:g.40431209G>T (hg19) ; chr1:g.39965537G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965537G>T , CM000663.2:g.39965537G>T	GRCh38
NC_000001.10:g.40431209G>T , CM000663.1:g.40431209G>T	GRCh37
NC_000001.9:g.40203796G>T	NCBI36
NG_053084.1:g.15426G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.544G>T MANE Select	ENSP00000361898.6:p.Ala182Ser
ENST00000372809.5:c.583G>T	ENSP00000361895.5:p.Ala195Ser
ENST00000372811.9:c.544G>T	ENSP00000361898.5:p.Ala182Ser
ENST00000420632.6:c.76G>T	ENSP00000391261.2:p.Ala26Ser
ENST00000434861.5:c.538G>T	ENSP00000407606.1:p.Ala180Ser
ENST00000469745.5:n.456G>T
ENST00000480630.5:n.1191G>T
ENST00000483824.5:n.679G>T
NM_001136493.2:c.583G>T	NP_001129965.1:p.Ala195Ser
NM_001287808.1:c.76G>T	NP_001274737.1:p.Ala26Ser
NM_001287809.1:c.433G>T	NP_001274738.1:p.Ala145Ser
NM_032793.4:c.544G>T	NP_116182.2:p.Ala182Ser
NR_109896.1:n.725G>T
XM_005271285.1:c.538G>T	XP_005271342.1:p.Ala180Ser
XM_011542312.1:c.544G>T	XP_011540614.1:p.Ala182Ser
XR_946783.1:n.692G>T
NM_001349821.1:c.538G>T	NP_001336750.1:p.Ala180Ser
NM_001349822.1:c.544G>T	NP_001336751.1:p.Ala182Ser
NM_001349823.1:c.199G>T	NP_001336752.1:p.Ala67Ser
NM_001136493.3:c.583G>T	NP_001129965.1:p.Ala195Ser
NM_001287809.2:c.433G>T	NP_001274738.1:p.Ala145Ser
NM_001349821.2:c.538G>T	NP_001336750.1:p.Ala180Ser
NM_001349822.2:c.544G>T	NP_001336751.1:p.Ala182Ser
NM_001349823.2:c.199G>T	NP_001336752.1:p.Ala67Ser
NM_032793.5:c.544G>T MANE Select	NP_116182.2:p.Ala182Ser
NR_109896.2:n.692G>T
NM_001287808.2:c.76G>T	NP_001274737.1:p.Ala26Ser