Canonical Allele Identifier: CA7613443
Gene: MTFMT HGNC NCBI

Linked Data

ClinVar Variation Id: 374493
ClinVar RCV Id: RCV000416005 RCV000441542 RCV003902461
dbSNP Id: rs199599204
ExAC: 15:65321936 G / A
gnomAD v2: 15-65321936-G-A
gnomAD v3: 15-65029598-G-A
gnomAD v4: 15-65029598-G-A
MyVariant Identifiers: chr15:g.65321936G>A (hg19) chr15:g.65029598G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65029598G>A , CM000677.2:g.65029598G>A GRCh38
NC_000015.9:g.65321936G>A , CM000677.1:g.65321936G>A GRCh37
NC_000015.8:g.63108989G>A NCBI36
NG_029184.1:g.5042C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000220058.9:c.16C>T MANE Select ENSP00000220058.4:p.Arg6Trp
ENST00000220058.8:c.16C>T ENSP00000220058.4:p.Arg6Trp
ENST00000543678.1:c.16C>T ENSP00000443754.1:p.Arg6Trp
ENST00000558460.5:c.16C>T ENSP00000452646.1:p.Arg6Trp
ENST00000560717.5:c.1C>T ENSP00000457257.1:p.Arg1Trp
NM_139242.3:c.16C>T NP_640335.2:p.Arg6Trp
XM_005254158.5:c.16C>T XP_005254215.2:p.Arg6Trp
XR_001751081.1:n.31C>T
NM_139242.4:c.16C>T MANE Select NP_640335.2:p.Arg6Trp
Search 100 bp 5'
Search 100 bp 3'