Canonical Allele Identifier: CA417529504

Gene: MFSD2A

Linked Data

• gnomAD v4: 1-39965509-C-T
• MyVariant Identifiers: chr1:g.40431181C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965509C>T , CM000663.2:g.39965509C>T	GRCh38
NC_000001.10:g.40431181C>T , CM000663.1:g.40431181C>T	GRCh37
NC_000001.9:g.40203768C>T	NCBI36
NG_053084.1:g.15398C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.516C>T MANE Select	ENSP00000361898.6:p.Ile172=
ENST00000372809.5:c.555C>T	ENSP00000361895.5:p.Ile185=
ENST00000372811.9:c.516C>T	ENSP00000361898.5:p.Ile172=
ENST00000420632.6:c.48C>T	ENSP00000391261.2:p.Ile16=
ENST00000434861.5:c.510C>T	ENSP00000407606.1:p.Ile170=
ENST00000469745.5:n.428C>T
ENST00000480630.5:n.1163C>T
ENST00000483824.5:n.651C>T
NM_001136493.2:c.555C>T	NP_001129965.1:p.Ile185=
NM_001287808.1:c.48C>T	NP_001274737.1:p.Ile16=
NM_001287809.1:c.405C>T	NP_001274738.1:p.Ile135=
NM_032793.4:c.516C>T	NP_116182.2:p.Ile172=
NR_109896.1:n.697C>T
XM_005271285.1:c.510C>T	XP_005271342.1:p.Ile170=
XM_011542312.1:c.516C>T	XP_011540614.1:p.Ile172=
XR_946783.1:n.664C>T
NM_001349821.1:c.510C>T	NP_001336750.1:p.Ile170=
NM_001349822.1:c.516C>T	NP_001336751.1:p.Ile172=
NM_001349823.1:c.171C>T	NP_001336752.1:p.Ile57=
NM_001136493.3:c.555C>T	NP_001129965.1:p.Ile185=
NM_001287809.2:c.405C>T	NP_001274738.1:p.Ile135=
NM_001349821.2:c.510C>T	NP_001336750.1:p.Ile170=
NM_001349822.2:c.516C>T	NP_001336751.1:p.Ile172=
NM_001349823.2:c.171C>T	NP_001336752.1:p.Ile57=
NM_032793.5:c.516C>T MANE Select	NP_116182.2:p.Ile172=
NR_109896.2:n.664C>T
NM_001287808.2:c.48C>T	NP_001274737.1:p.Ile16=