Canonical Allele Identifier: CA130599
Gene: MTFMT HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.65021533G>A
GRCh37 chr15:g.65313871G>A
Revel Score:
ENST00000220058 (MANE Select) 0.811
gnomAD v2:
15:65313871 G / A
gnomAD v3:
15:65021533 G / A
gnomAD v4:
chr15-65021533-G-A
Joint Max Group AF 0.000861 (NFE)
Genomes Max Group AF 0.00086098 (NFE)
Exomes Max Group AF 0.00085071 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65021533G>A , CM000677.2:g.65021533G>A GRCh38
NC_000015.9:g.65313871G>A , CM000677.1:g.65313871G>A GRCh37
NC_000015.8:g.63100924G>A NCBI36
NG_029184.1:g.13107C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000220058.9:c.626C>T MANE Select ENSP00000220058.4:p.Ser209Leu
ENST00000220058.8:c.626C>T ENSP00000220058.4:p.Ser209Leu
ENST00000543678.1:c.420-1261C>T ENSP00000443754.1:n.420-1261C>T
ENST00000558460.5:c.626C>T ENSP00000452646.1:p.Ser209Leu
ENST00000558614.1:n.504-1261C>T
ENST00000560717.5:c.501C>T ENSP00000457257.1:n.501C>T
ENST00000561025.1:n.185C>T
NM_139242.3:c.626C>T NP_640335.2:p.Ser209Leu
XM_005254158.3:c.371C>T XP_005254215.1:p.Ser124Leu
XM_005254158.5:c.779C>T XP_005254215.2:p.Ser260Leu
XR_001751081.1:n.711-1261C>T
NM_139242.4:c.626C>T MANE Select NP_640335.2:p.Ser209Leu
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