Canonical Allele Identifier: CA392863930

Gene: MTFMT

Linked Data

• dbSNP Id: rs1356831081
• gnomAD v4: 15-65029608-C-A
• MyVariant Identifiers: chr15:g.65321946C>A (hg19) ; chr15:g.65029608C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029608C>A , CM000677.2:g.65029608C>A	GRCh38
NC_000015.9:g.65321946C>A , CM000677.1:g.65321946C>A	GRCh37
NC_000015.8:g.63108999C>A	NCBI36
NG_029184.1:g.5032G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.6G>T MANE Select	ENSP00000220058.4:p.Arg2Ser
ENST00000220058.8:c.6G>T	ENSP00000220058.4:p.Arg2Ser
ENST00000543678.1:c.6G>T	ENSP00000443754.1:p.Arg2Ser
ENST00000558460.5:c.6G>T	ENSP00000452646.1:p.Arg2Ser
NM_139242.3:c.6G>T	NP_640335.2:p.Arg2Ser
XM_005254158.5:c.6G>T	XP_005254215.2:p.Arg2Ser
XR_001751081.1:n.21G>T
NM_139242.4:c.6G>T MANE Select	NP_640335.2:p.Arg2Ser