Canonical Allele Identifier: CA392863517
Gene: MTFMT HGNC NCBI

Linked Data

ClinVar Variation Id: 1919955
ClinVar RCV Id: RCV002604017
dbSNP Id: rs935174845
gnomAD v2: 15-65321908-T-G
gnomAD v3: 15-65029570-T-G
gnomAD v4: 15-65029570-T-G
MyVariant Identifiers: chr15:g.65321908T>G (hg19) chr15:g.65029570T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65029570T>G , CM000677.2:g.65029570T>G GRCh38
NC_000015.9:g.65321908T>G , CM000677.1:g.65321908T>G GRCh37
NC_000015.8:g.63108961T>G NCBI36
NG_029184.1:g.5070A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000220058.9:c.44A>C MANE Select ENSP00000220058.4:p.His15Pro
ENST00000220058.8:c.44A>C ENSP00000220058.4:p.His15Pro
ENST00000543678.1:c.44A>C ENSP00000443754.1:p.His15Pro
ENST00000558460.5:c.44A>C ENSP00000452646.1:p.His15Pro
ENST00000558614.1:n.5A>C
ENST00000560717.5:c.29A>C ENSP00000457257.1:p.His10Pro
NM_139242.3:c.44A>C NP_640335.2:p.His15Pro
XM_005254158.5:c.44A>C XP_005254215.2:p.His15Pro
XR_001751081.1:n.59A>C
NM_139242.4:c.44A>C MANE Select NP_640335.2:p.His15Pro
Search 100 bp 5'
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