Canonical Allele Identifier: CA271504572

Gene: MTFMT

Linked Data

• ClinVar Variation Id: 1228247
• ClinVar RCV Id: RCV001614338
• dbSNP Id: rs116654001
• gnomAD v2: 15-65321596-G-C
• gnomAD v3: 15-65029258-G-C
• gnomAD v4: 15-65029258-G-C
• MyVariant Identifiers: chr15:g.65321596G>C (hg19) ; chr15:g.65029258G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029258G>C , CM000677.2:g.65029258G>C	GRCh38
NC_000015.9:g.65321596G>C , CM000677.1:g.65321596G>C	GRCh37
NC_000015.8:g.63108649G>C	NCBI36
NG_029184.1:g.5382C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.209+147C>G MANE Select	ENSP00000220058.4:n.209+147C>G
ENST00000220058.8:c.209+147C>G	ENSP00000220058.4:n.209+147C>G
ENST00000543678.1:c.209+147C>G	ENSP00000443754.1:n.209+147C>G
ENST00000558460.5:c.209+147C>G	ENSP00000452646.1:n.209+147C>G
ENST00000558614.1:n.170+147C>G
ENST00000559633.1:n.128+147C>G
ENST00000560717.5:c.194+147C>G	ENSP00000457257.1:n.194+147C>G
NM_139242.3:c.209+147C>G	NP_640335.2:n.209+147C>G
XM_005254158.3:c.-53C>G	XP_005254215.1:n.-53C>G
XM_005254158.5:c.356C>G	XP_005254215.2:p.Pro119Arg
XR_001751081.1:n.371C>G
NM_139242.4:c.209+147C>G MANE Select	NP_640335.2:n.209+147C>G