Canonical Allele Identifier: CA271504567

Gene: MTFMT

Linked Data

• dbSNP Id: rs918212782
• gnomAD v2: 15-65321551-T-G
• gnomAD v3: 15-65029213-T-G
• gnomAD v4: 15-65029213-T-G
• MyVariant Identifiers: chr15:g.65321551T>G (hg19) ; chr15:g.65029213T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029213T>G , CM000677.2:g.65029213T>G	GRCh38
NC_000015.9:g.65321551T>G , CM000677.1:g.65321551T>G	GRCh37
NC_000015.8:g.63108604T>G	NCBI36
NG_029184.1:g.5427A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.209+192A>C MANE Select	ENSP00000220058.4:n.209+192A>C
ENST00000220058.8:c.209+192A>C	ENSP00000220058.4:n.209+192A>C
ENST00000543678.1:c.209+192A>C	ENSP00000443754.1:n.209+192A>C
ENST00000558460.5:c.209+192A>C	ENSP00000452646.1:n.209+192A>C
ENST00000558614.1:n.170+192A>C
ENST00000559633.1:n.128+192A>C
ENST00000560717.5:c.194+192A>C	ENSP00000457257.1:n.194+192A>C
NM_139242.3:c.209+192A>C	NP_640335.2:n.209+192A>C
XM_005254158.3:c.-47+39A>C	XP_005254215.1:n.-47+39A>C
XM_005254158.5:c.362+39A>C	XP_005254215.2:n.362+39A>C
XR_001751081.1:n.377+39A>C
NM_139242.4:c.209+192A>C MANE Select	NP_640335.2:n.209+192A>C