Canonical Allele Identifier: CA339834847

Gene: MFSD2A

Linked Data

• MyVariant Identifiers: chr1:g.40431180T>C (hg19) ; chr1:g.39965508T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965508T>C , CM000663.2:g.39965508T>C	GRCh38
NC_000001.10:g.40431180T>C , CM000663.1:g.40431180T>C	GRCh37
NC_000001.9:g.40203767T>C	NCBI36
NG_053084.1:g.15397T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.515T>C MANE Select	ENSP00000361898.6:p.Ile172Thr
ENST00000372809.5:c.554T>C	ENSP00000361895.5:p.Ile185Thr
ENST00000372811.9:c.515T>C	ENSP00000361898.5:p.Ile172Thr
ENST00000420632.6:c.47T>C	ENSP00000391261.2:p.Ile16Thr
ENST00000434861.5:c.509T>C	ENSP00000407606.1:p.Ile170Thr
ENST00000469745.5:n.427T>C
ENST00000480630.5:n.1162T>C
ENST00000483824.5:n.650T>C
NM_001136493.2:c.554T>C	NP_001129965.1:p.Ile185Thr
NM_001287808.1:c.47T>C	NP_001274737.1:p.Ile16Thr
NM_001287809.1:c.404T>C	NP_001274738.1:p.Ile135Thr
NM_032793.4:c.515T>C	NP_116182.2:p.Ile172Thr
NR_109896.1:n.696T>C
XM_005271285.1:c.509T>C	XP_005271342.1:p.Ile170Thr
XM_011542312.1:c.515T>C	XP_011540614.1:p.Ile172Thr
XR_946783.1:n.663T>C
NM_001349821.1:c.509T>C	NP_001336750.1:p.Ile170Thr
NM_001349822.1:c.515T>C	NP_001336751.1:p.Ile172Thr
NM_001349823.1:c.170T>C	NP_001336752.1:p.Ile57Thr
NM_001136493.3:c.554T>C	NP_001129965.1:p.Ile185Thr
NM_001287809.2:c.404T>C	NP_001274738.1:p.Ile135Thr
NM_001349821.2:c.509T>C	NP_001336750.1:p.Ile170Thr
NM_001349822.2:c.515T>C	NP_001336751.1:p.Ile172Thr
NM_001349823.2:c.170T>C	NP_001336752.1:p.Ile57Thr
NM_032793.5:c.515T>C MANE Select	NP_116182.2:p.Ile172Thr
NR_109896.2:n.663T>C
NM_001287808.2:c.47T>C	NP_001274737.1:p.Ile16Thr