Canonical Allele Identifier: CA271504582

Gene: MTFMT

Linked Data

• dbSNP Id: rs916347929
• gnomAD v4: 15-65029282-G-A
• MyVariant Identifiers: chr15:g.65321620G>A (hg19) ; chr15:g.65029282G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029282G>A , CM000677.2:g.65029282G>A	GRCh38
NC_000015.9:g.65321620G>A , CM000677.1:g.65321620G>A	GRCh37
NC_000015.8:g.63108673G>A	NCBI36
NG_029184.1:g.5358C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.209+123C>T MANE Select	ENSP00000220058.4:n.209+123C>T
ENST00000220058.8:c.209+123C>T	ENSP00000220058.4:n.209+123C>T
ENST00000543678.1:c.209+123C>T	ENSP00000443754.1:n.209+123C>T
ENST00000558460.5:c.209+123C>T	ENSP00000452646.1:n.209+123C>T
ENST00000558614.1:n.170+123C>T
ENST00000559633.1:n.128+123C>T
ENST00000560717.5:c.194+123C>T	ENSP00000457257.1:n.194+123C>T
NM_139242.3:c.209+123C>T	NP_640335.2:n.209+123C>T
XM_005254158.3:c.-77C>T	XP_005254215.1:n.-77C>T
XM_005254158.5:c.332C>T	XP_005254215.2:p.Pro111Leu
XR_001751081.1:n.347C>T
NM_139242.4:c.209+123C>T MANE Select	NP_640335.2:n.209+123C>T