Canonical Allele Identifier: CA271504657

Gene: MTFMT

Linked Data

• dbSNP Id: rs1055498935
• gnomAD v3: 15-65029353-C-A
• gnomAD v4: 15-65029353-C-A
• MyVariant Identifiers: chr15:g.65321691C>A (hg19) ; chr15:g.65029353C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029353C>A , CM000677.2:g.65029353C>A	GRCh38
NC_000015.9:g.65321691C>A , CM000677.1:g.65321691C>A	GRCh37
NC_000015.8:g.63108744C>A	NCBI36
NG_029184.1:g.5287G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.209+52G>T MANE Select	ENSP00000220058.4:n.209+52G>T
ENST00000220058.8:c.209+52G>T	ENSP00000220058.4:n.209+52G>T
ENST00000543678.1:c.209+52G>T	ENSP00000443754.1:n.209+52G>T
ENST00000558460.5:c.209+52G>T	ENSP00000452646.1:n.209+52G>T
ENST00000558614.1:n.170+52G>T
ENST00000559633.1:n.128+52G>T
ENST00000560717.5:c.194+52G>T	ENSP00000457257.1:n.194+52G>T
NM_139242.3:c.209+52G>T	NP_640335.2:n.209+52G>T
XM_005254158.5:c.261G>T	XP_005254215.2:p.Ala87=
XR_001751081.1:n.276G>T
NM_139242.4:c.209+52G>T MANE Select	NP_640335.2:n.209+52G>T