Canonical Allele Identifier: CA339834804

Gene: MFSD2A

Linked Data

• gnomAD v4: 1-39965502-T-C
• MyVariant Identifiers: chr1:g.40431174T>C (hg19) ; chr1:g.39965502T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.39965502T>C , CM000663.2:g.39965502T>C	GRCh38
NC_000001.10:g.40431174T>C , CM000663.1:g.40431174T>C	GRCh37
NC_000001.9:g.40203761T>C	NCBI36
NG_053084.1:g.15391T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372811.10:c.509T>C MANE Select	ENSP00000361898.6:p.Met170Thr
ENST00000372809.5:c.548T>C	ENSP00000361895.5:p.Met183Thr
ENST00000372811.9:c.509T>C	ENSP00000361898.5:p.Met170Thr
ENST00000420632.6:c.41T>C	ENSP00000391261.2:p.Met14Thr
ENST00000434861.5:c.503T>C	ENSP00000407606.1:p.Met168Thr
ENST00000469745.5:n.421T>C
ENST00000480630.5:n.1156T>C
ENST00000483824.5:n.644T>C
NM_001136493.2:c.548T>C	NP_001129965.1:p.Met183Thr
NM_001287808.1:c.41T>C	NP_001274737.1:p.Met14Thr
NM_001287809.1:c.398T>C	NP_001274738.1:p.Met133Thr
NM_032793.4:c.509T>C	NP_116182.2:p.Met170Thr
NR_109896.1:n.690T>C
XM_005271285.1:c.503T>C	XP_005271342.1:p.Met168Thr
XM_011542312.1:c.509T>C	XP_011540614.1:p.Met170Thr
XR_946783.1:n.657T>C
NM_001349821.1:c.503T>C	NP_001336750.1:p.Met168Thr
NM_001349822.1:c.509T>C	NP_001336751.1:p.Met170Thr
NM_001349823.1:c.164T>C	NP_001336752.1:p.Met55Thr
NM_001136493.3:c.548T>C	NP_001129965.1:p.Met183Thr
NM_001287809.2:c.398T>C	NP_001274738.1:p.Met133Thr
NM_001349821.2:c.503T>C	NP_001336750.1:p.Met168Thr
NM_001349822.2:c.509T>C	NP_001336751.1:p.Met170Thr
NM_001349823.2:c.164T>C	NP_001336752.1:p.Met55Thr
NM_032793.5:c.509T>C MANE Select	NP_116182.2:p.Met170Thr
NR_109896.2:n.657T>C
NM_001287808.2:c.41T>C	NP_001274737.1:p.Met14Thr