Canonical Allele Identifier: CA7613428

Gene: MTFMT

Linked Data

• dbSNP Id: rs763779460
• ExAC: 15:65321767 G / A
• gnomAD v2: 15-65321767-G-A
• gnomAD v3: 15-65029429-G-A
• gnomAD v4: 15-65029429-G-A
• MyVariant Identifiers: chr15:g.65321767G>A (hg19) ; chr15:g.65029429G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029429G>A , CM000677.2:g.65029429G>A	GRCh38
NC_000015.9:g.65321767G>A , CM000677.1:g.65321767G>A	GRCh37
NC_000015.8:g.63108820G>A	NCBI36
NG_029184.1:g.5211C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.185C>T MANE Select	ENSP00000220058.4:p.Ala62Val
ENST00000220058.8:c.185C>T	ENSP00000220058.4:p.Ala62Val
ENST00000543678.1:c.185C>T	ENSP00000443754.1:p.Ala62Val
ENST00000558460.5:c.185C>T	ENSP00000452646.1:p.Ala62Val
ENST00000558614.1:n.146C>T
ENST00000559633.1:n.104C>T
ENST00000560717.5:c.170C>T	ENSP00000457257.1:p.Ala57Val
NM_139242.3:c.185C>T	NP_640335.2:p.Ala62Val
XM_005254158.5:c.185C>T	XP_005254215.2:p.Ala62Val
XR_001751081.1:n.200C>T
NM_139242.4:c.185C>T MANE Select	NP_640335.2:p.Ala62Val