Canonical Allele Identifier: CA16619987

Gene: MTFMT

Linked Data

• ClinVar Variation Id: 418336
• ClinVar RCV Id: RCV000486527 ; RCV003317232
• dbSNP Id: rs1064793194
• gnomAD v3: 15-65023780-A-C
• gnomAD v4: 15-65023780-A-C
• MyVariant Identifiers: chr15:g.65316118A>C (hg19) ; chr15:g.65023780A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65023780A>C , CM000677.2:g.65023780A>C	GRCh38
NC_000015.9:g.65316118A>C , CM000677.1:g.65316118A>C	GRCh37
NC_000015.8:g.63103171A>C	NCBI36
NG_029184.1:g.10860T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000220058.9:c.434T>G MANE Select	ENSP00000220058.4:p.Val145Gly
ENST00000220058.8:c.434T>G	ENSP00000220058.4:p.Val145Gly
ENST00000543678.1:c.419+3051T>G	ENSP00000443754.1:n.419+3051T>G
ENST00000558460.5:c.434T>G	ENSP00000452646.1:p.Val145Gly
ENST00000558614.1:n.395T>G
ENST00000560717.5:c.418-2164T>G	ENSP00000457257.1:n.418-2164T>G
ENST00000561025.1:n.102-2164T>G
NM_139242.3:c.434T>G	NP_640335.2:p.Val145Gly
XM_005254158.3:c.179T>G	XP_005254215.1:p.Val60Gly
XM_005254158.5:c.587T>G	XP_005254215.2:p.Val196Gly
XR_001751081.1:n.602T>G
NM_139242.4:c.434T>G MANE Select	NP_640335.2:p.Val145Gly