Canonical Allele Identifier: CA714891962

Gene: MTFMT

Linked Data

• dbSNP Id: rs1472416215
• gnomAD v3: 15-65029234-C-G
• gnomAD v4: 15-65029234-C-G
• MyVariant Identifiers: chr15:g.65321572C>G (hg19) ; chr15:g.65029234C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029234C>G , CM000677.2:g.65029234C>G	GRCh38
NC_000015.9:g.65321572C>G , CM000677.1:g.65321572C>G	GRCh37
NC_000015.8:g.63108625C>G	NCBI36
NG_029184.1:g.5406G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.209+171G>C MANE Select	ENSP00000220058.4:n.209+171G>C
ENST00000220058.8:c.209+171G>C	ENSP00000220058.4:n.209+171G>C
ENST00000543678.1:c.209+171G>C	ENSP00000443754.1:n.209+171G>C
ENST00000558460.5:c.209+171G>C	ENSP00000452646.1:n.209+171G>C
ENST00000558614.1:n.170+171G>C
ENST00000559633.1:n.128+171G>C
ENST00000560717.5:c.194+171G>C	ENSP00000457257.1:n.194+171G>C
NM_139242.3:c.209+171G>C	NP_640335.2:n.209+171G>C
XM_005254158.3:c.-47+18G>C	XP_005254215.1:n.-47+18G>C
XM_005254158.5:c.362+18G>C	XP_005254215.2:n.362+18G>C
XR_001751081.1:n.377+18G>C
NM_139242.4:c.209+171G>C MANE Select	NP_640335.2:n.209+171G>C