Canonical Allele Identifier: CA392862299

Gene: MTFMT

Linked Data

• dbSNP Id: rs1457351465
• gnomAD v2: 15-65321786-C-G
• gnomAD v3: 15-65029448-C-G
• gnomAD v4: 15-65029448-C-G
• MyVariant Identifiers: chr15:g.65321786C>G (hg19) ; chr15:g.65029448C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029448C>G , CM000677.2:g.65029448C>G	GRCh38
NC_000015.9:g.65321786C>G , CM000677.1:g.65321786C>G	GRCh37
NC_000015.8:g.63108839C>G	NCBI36
NG_029184.1:g.5192G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000220058.9:c.166G>C MANE Select	ENSP00000220058.4:p.Asp56His
ENST00000220058.8:c.166G>C	ENSP00000220058.4:p.Asp56His
ENST00000543678.1:c.166G>C	ENSP00000443754.1:p.Asp56His
ENST00000558460.5:c.166G>C	ENSP00000452646.1:p.Asp56His
ENST00000558614.1:n.127G>C
ENST00000559633.1:n.85G>C
ENST00000560717.5:c.151G>C	ENSP00000457257.1:p.Asp51His
NM_139242.3:c.166G>C	NP_640335.2:p.Asp56His
XM_005254158.5:c.166G>C	XP_005254215.2:p.Asp56His
XR_001751081.1:n.181G>C
NM_139242.4:c.166G>C MANE Select	NP_640335.2:p.Asp56His