Canonical Allele Identifier: CA392863709

Gene: MTFMT

Linked Data

• ClinVar Variation Id: 2070123
• ClinVar RCV Id: RCV002966894
• gnomAD v4: 15-65029591-C-G
• MyVariant Identifiers: chr15:g.65321929C>G (hg19) ; chr15:g.65029591C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029591C>G , CM000677.2:g.65029591C>G	GRCh38
NC_000015.9:g.65321929C>G , CM000677.1:g.65321929C>G	GRCh37
NC_000015.8:g.63108982C>G	NCBI36
NG_029184.1:g.5049G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.23G>C MANE Select	ENSP00000220058.4:p.Cys8Ser
ENST00000220058.8:c.23G>C	ENSP00000220058.4:p.Cys8Ser
ENST00000543678.1:c.23G>C	ENSP00000443754.1:p.Cys8Ser
ENST00000558460.5:c.23G>C	ENSP00000452646.1:p.Cys8Ser
ENST00000560717.5:c.8G>C	ENSP00000457257.1:p.Cys3Ser
NM_139242.3:c.23G>C	NP_640335.2:p.Cys8Ser
XM_005254158.5:c.23G>C	XP_005254215.2:p.Cys8Ser
XR_001751081.1:n.38G>C
NM_139242.4:c.23G>C MANE Select	NP_640335.2:p.Cys8Ser