Canonical Allele Identifier: CA392863021

Gene: MTFMT

Linked Data

• gnomAD v4: 15-65029513-C-A
• MyVariant Identifiers: chr15:g.65321851C>A (hg19) ; chr15:g.65029513C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029513C>A , CM000677.2:g.65029513C>A	GRCh38
NC_000015.9:g.65321851C>A , CM000677.1:g.65321851C>A	GRCh37
NC_000015.8:g.63108904C>A	NCBI36
NG_029184.1:g.5127G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.101G>T MANE Select	ENSP00000220058.4:p.Trp34Leu
ENST00000220058.8:c.101G>T	ENSP00000220058.4:p.Trp34Leu
ENST00000543678.1:c.101G>T	ENSP00000443754.1:p.Trp34Leu
ENST00000558460.5:c.101G>T	ENSP00000452646.1:p.Trp34Leu
ENST00000558614.1:n.62G>T
ENST00000559633.1:n.20G>T
ENST00000560717.5:c.86G>T	ENSP00000457257.1:p.Trp29Leu
NM_139242.3:c.101G>T	NP_640335.2:p.Trp34Leu
XM_005254158.5:c.101G>T	XP_005254215.2:p.Trp34Leu
XR_001751081.1:n.116G>T
NM_139242.4:c.101G>T MANE Select	NP_640335.2:p.Trp34Leu