Canonical Allele Identifier: CA7613429
Gene: MTFMT HGNC NCBI

Linked Data

ClinVar Variation Id: 440931
ClinVar RCV Id: RCV000509123 RCV000676589
dbSNP Id: rs188718836
ExAC: 15:65321780 A / T
gnomAD v2: 15-65321780-A-T
gnomAD v3: 15-65029442-A-T
gnomAD v4: 15-65029442-A-T
COSMIC: COSM3690489 COSM3690490
MyVariant Identifiers: chr15:g.65321780A>T (hg19) chr15:g.65029442A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65029442A>T , CM000677.2:g.65029442A>T GRCh38
NC_000015.9:g.65321780A>T , CM000677.1:g.65321780A>T GRCh37
NC_000015.8:g.63108833A>T NCBI36
NG_029184.1:g.5198T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000220058.9:c.172T>A MANE Select ENSP00000220058.4:p.Phe58Ile
ENST00000220058.8:c.172T>A ENSP00000220058.4:p.Phe58Ile
ENST00000543678.1:c.172T>A ENSP00000443754.1:p.Phe58Ile
ENST00000558460.5:c.172T>A ENSP00000452646.1:p.Phe58Ile
ENST00000558614.1:n.133T>A
ENST00000559633.1:n.91T>A
ENST00000560717.5:c.157T>A ENSP00000457257.1:p.Phe53Ile
NM_139242.3:c.172T>A NP_640335.2:p.Phe58Ile
XM_005254158.5:c.172T>A XP_005254215.2:p.Phe58Ile
XR_001751081.1:n.187T>A
NM_139242.4:c.172T>A MANE Select NP_640335.2:p.Phe58Ile
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