Canonical Allele Identifier: CA271504649

Gene: MTFMT

Linked Data

• dbSNP Id: rs997536688
• gnomAD v2: 15-65321685-C-T
• gnomAD v3: 15-65029347-C-T
• gnomAD v4: 15-65029347-C-T
• MyVariant Identifiers: chr15:g.65321685C>T (hg19) ; chr15:g.65029347C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029347C>T , CM000677.2:g.65029347C>T	GRCh38
NC_000015.9:g.65321685C>T , CM000677.1:g.65321685C>T	GRCh37
NC_000015.8:g.63108738C>T	NCBI36
NG_029184.1:g.5293G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.209+58G>A MANE Select	ENSP00000220058.4:n.209+58G>A
ENST00000220058.8:c.209+58G>A	ENSP00000220058.4:n.209+58G>A
ENST00000543678.1:c.209+58G>A	ENSP00000443754.1:n.209+58G>A
ENST00000558460.5:c.209+58G>A	ENSP00000452646.1:n.209+58G>A
ENST00000558614.1:n.170+58G>A
ENST00000559633.1:n.128+58G>A
ENST00000560717.5:c.194+58G>A	ENSP00000457257.1:n.194+58G>A
NM_139242.3:c.209+58G>A	NP_640335.2:n.209+58G>A
XM_005254158.3:c.-142G>A	XP_005254215.1:n.-142G>A
XM_005254158.5:c.267G>A	XP_005254215.2:p.Gly89=
XR_001751081.1:n.282G>A
NM_139242.4:c.209+58G>A MANE Select	NP_640335.2:n.209+58G>A