Canonical Allele Identifier: CA271504927
Gene: MTFMT HGNC NCBI

Linked Data

ClinVar Variation Id: 1684927
ClinVar RCV Id: RCV002248019 RCV003120849
dbSNP Id: rs991786040
gnomAD v3: 15-65029610-T-C
gnomAD v4: 15-65029610-T-C
MyVariant Identifiers: chr15:g.65321948T>C (hg19) chr15:g.65029610T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65029610T>C , CM000677.2:g.65029610T>C GRCh38
NC_000015.9:g.65321948T>C , CM000677.1:g.65321948T>C GRCh37
NC_000015.8:g.63109001T>C NCBI36
NG_029184.1:g.5030A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000220058.9:c.4A>G MANE Select ENSP00000220058.4:p.Arg2Gly
ENST00000220058.8:c.4A>G ENSP00000220058.4:p.Arg2Gly
ENST00000543678.1:c.4A>G ENSP00000443754.1:p.Arg2Gly
ENST00000558460.5:c.4A>G ENSP00000452646.1:p.Arg2Gly
NM_139242.3:c.4A>G NP_640335.2:p.Arg2Gly
XM_005254158.5:c.4A>G XP_005254215.2:p.Arg2Gly
XR_001751081.1:n.19A>G
NM_139242.4:c.4A>G MANE Select NP_640335.2:p.Arg2Gly
Search 100 bp 5'
Search 100 bp 3'