Canonical Allele Identifier: CA3078569221
Community Standard Title: NM_032793.5(MFSD2A):c.1012-160G=
Gene: MFSD2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.39967468G= , CM000663.2:g.39967468G= GRCh38
NC_000001.10:g.40433140G= , CM000663.1:g.40433140G= GRCh37
NC_000001.9:g.40205727G= NCBI36
NG_053084.1:g.17357G=

Transcript Alleles

HGVS Amino-acid Change
NM_032793.5:c.1012-160G= MANE Select NP_116182.2:n.1012-160G=
ENST00000372811.10:c.1012-160G= MANE Select ENSP00000361898.6:n.1012-160G=
NM_001136493.2:c.1051-160G= NP_001129965.1:n.1051-160G=
NM_001136493.3:c.1051-160G= NP_001129965.1:n.1051-160G=
NM_001287808.1:c.544-160G= NP_001274737.1:n.544-160G=
NM_001287808.2:c.544-160G= NP_001274737.1:n.544-160G=
NM_001287809.1:c.895-160G= NP_001274738.1:n.895-160G=
NM_001287809.2:c.895-160G= NP_001274738.1:n.895-160G=
NM_001349821.1:c.1006-160G= NP_001336750.1:n.1006-160G=
NM_001349821.2:c.1006-160G= NP_001336750.1:n.1006-160G=
NM_001349822.1:c.1011+299G= NP_001336751.1:n.1011+299G=
NM_001349822.2:c.1011+299G= NP_001336751.1:n.1011+299G=
NM_001349823.1:c.667-160G= NP_001336752.1:n.667-160G=
NM_001349823.2:c.667-160G= NP_001336752.1:n.667-160G=
NM_032793.4:c.1012-160G= NP_116182.2:n.1012-160G=
NR_109896.1:n.1192+299G=
NR_109896.2:n.1159+299G=
ENST00000372809.5:c.1051-160G= ENSP00000361895.5:n.1051-160G=
ENST00000372811.9:c.1012-160G= ENSP00000361898.5:n.1012-160G=
ENST00000420632.6:c.544-160G= ENSP00000391261.2:n.544-160G=
ENST00000480630.5:n.1453-160G=
ENST00000483824.5:n.1146+299G=
ENST00000491515.5:n.237-160G=
XM_005271285.1:c.1006-160G= XP_005271342.1:n.1006-160G=
XM_011542312.1:c.1011+299G= XP_011540614.1:n.1011+299G=
XR_946783.1:n.954-160G=