Canonical Allele Identifier: CA339834946

Gene: MFSD2A

Linked Data

• dbSNP Id: rs1645140058
• gnomAD v4: 1-39965522-A-G
• MyVariant Identifiers: chr1:g.40431194A>G (hg19) ; chr1:g.39965522A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965522A>G , CM000663.2:g.39965522A>G	GRCh38
NC_000001.10:g.40431194A>G , CM000663.1:g.40431194A>G	GRCh37
NC_000001.9:g.40203781A>G	NCBI36
NG_053084.1:g.15411A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.529A>G MANE Select	ENSP00000361898.6:p.Thr177Ala
ENST00000372809.5:c.568A>G	ENSP00000361895.5:p.Thr190Ala
ENST00000372811.9:c.529A>G	ENSP00000361898.5:p.Thr177Ala
ENST00000420632.6:c.61A>G	ENSP00000391261.2:p.Thr21Ala
ENST00000434861.5:c.523A>G	ENSP00000407606.1:p.Thr175Ala
ENST00000469745.5:n.441A>G
ENST00000480630.5:n.1176A>G
ENST00000483824.5:n.664A>G
NM_001136493.2:c.568A>G	NP_001129965.1:p.Thr190Ala
NM_001287808.1:c.61A>G	NP_001274737.1:p.Thr21Ala
NM_001287809.1:c.418A>G	NP_001274738.1:p.Thr140Ala
NM_032793.4:c.529A>G	NP_116182.2:p.Thr177Ala
NR_109896.1:n.710A>G
XM_005271285.1:c.523A>G	XP_005271342.1:p.Thr175Ala
XM_011542312.1:c.529A>G	XP_011540614.1:p.Thr177Ala
XR_946783.1:n.677A>G
NM_001349821.1:c.523A>G	NP_001336750.1:p.Thr175Ala
NM_001349822.1:c.529A>G	NP_001336751.1:p.Thr177Ala
NM_001349823.1:c.184A>G	NP_001336752.1:p.Thr62Ala
NM_001136493.3:c.568A>G	NP_001129965.1:p.Thr190Ala
NM_001287809.2:c.418A>G	NP_001274738.1:p.Thr140Ala
NM_001349821.2:c.523A>G	NP_001336750.1:p.Thr175Ala
NM_001349822.2:c.529A>G	NP_001336751.1:p.Thr177Ala
NM_001349823.2:c.184A>G	NP_001336752.1:p.Thr62Ala
NM_032793.5:c.529A>G MANE Select	NP_116182.2:p.Thr177Ala
NR_109896.2:n.677A>G
NM_001287808.2:c.61A>G	NP_001274737.1:p.Thr21Ala