Canonical Allele Identifier: CA392863330

Gene: MTFMT

Linked Data

• gnomAD v4: 15-65029552-C-T
• MyVariant Identifiers: chr15:g.65321890C>T (hg19) ; chr15:g.65029552C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029552C>T , CM000677.2:g.65029552C>T	GRCh38
NC_000015.9:g.65321890C>T , CM000677.1:g.65321890C>T	GRCh37
NC_000015.8:g.63108943C>T	NCBI36
NG_029184.1:g.5088G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.62G>A MANE Select	ENSP00000220058.4:p.Arg21Lys
ENST00000220058.8:c.62G>A	ENSP00000220058.4:p.Arg21Lys
ENST00000543678.1:c.62G>A	ENSP00000443754.1:p.Arg21Lys
ENST00000558460.5:c.62G>A	ENSP00000452646.1:p.Arg21Lys
ENST00000558614.1:n.23G>A
ENST00000560717.5:c.47G>A	ENSP00000457257.1:p.Arg16Lys
NM_139242.3:c.62G>A	NP_640335.2:p.Arg21Lys
XM_005254158.5:c.62G>A	XP_005254215.2:p.Arg21Lys
XR_001751081.1:n.77G>A
NM_139242.4:c.62G>A MANE Select	NP_640335.2:p.Arg21Lys