Canonical Allele Identifier: CA271504865

Gene: MTFMT

Linked Data

• ClinVar Variation Id: 1031157
• ClinVar RCV Id: RCV001332912 ; RCV001859303 ; RCV004035753
• dbSNP Id: rs933296601
• gnomAD v2: 15-65321918-G-T
• gnomAD v3: 15-65029580-G-T
• gnomAD v4: 15-65029580-G-T
• MyVariant Identifiers: chr15:g.65321918G>T (hg19) ; chr15:g.65029580G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029580G>T , CM000677.2:g.65029580G>T	GRCh38
NC_000015.9:g.65321918G>T , CM000677.1:g.65321918G>T	GRCh37
NC_000015.8:g.63108971G>T	NCBI36
NG_029184.1:g.5060C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.34C>A MANE Select	ENSP00000220058.4:p.Pro12Thr
ENST00000220058.8:c.34C>A	ENSP00000220058.4:p.Pro12Thr
ENST00000543678.1:c.34C>A	ENSP00000443754.1:p.Pro12Thr
ENST00000558460.5:c.34C>A	ENSP00000452646.1:p.Pro12Thr
ENST00000560717.5:c.19C>A	ENSP00000457257.1:p.Pro7Thr
NM_139242.3:c.34C>A	NP_640335.2:p.Pro12Thr
XM_005254158.5:c.34C>A	XP_005254215.2:p.Pro12Thr
XR_001751081.1:n.49C>A
NM_139242.4:c.34C>A MANE Select	NP_640335.2:p.Pro12Thr