Canonical Allele Identifier: CA271504878
Gene: MTFMT HGNC NCBI

Linked Data

dbSNP Id: rs1050450261
gnomAD v2: 15-65321930-A-T
gnomAD v3: 15-65029592-A-T
gnomAD v4: 15-65029592-A-T
MyVariant Identifiers: chr15:g.65321930A>T (hg19) chr15:g.65029592A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65029592A>T , CM000677.2:g.65029592A>T GRCh38
NC_000015.9:g.65321930A>T , CM000677.1:g.65321930A>T GRCh37
NC_000015.8:g.63108983A>T NCBI36
NG_029184.1:g.5048T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000220058.9:c.22T>A MANE Select ENSP00000220058.4:p.Cys8Ser
ENST00000220058.8:c.22T>A ENSP00000220058.4:p.Cys8Ser
ENST00000543678.1:c.22T>A ENSP00000443754.1:p.Cys8Ser
ENST00000558460.5:c.22T>A ENSP00000452646.1:p.Cys8Ser
ENST00000560717.5:c.7T>A ENSP00000457257.1:p.Cys3Ser
NM_139242.3:c.22T>A NP_640335.2:p.Cys8Ser
XM_005254158.5:c.22T>A XP_005254215.2:p.Cys8Ser
XR_001751081.1:n.37T>A
NM_139242.4:c.22T>A MANE Select NP_640335.2:p.Cys8Ser
Search 100 bp 5'
Search 100 bp 3'