Canonical Allele Identifier: CA392863247
Gene: MTFMT HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.65321882G>C (hg19) chr15:g.65029544G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65029544G>C , CM000677.2:g.65029544G>C GRCh38
NC_000015.9:g.65321882G>C , CM000677.1:g.65321882G>C GRCh37
NC_000015.8:g.63108935G>C NCBI36
NG_029184.1:g.5096C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000220058.9:c.70C>G MANE Select ENSP00000220058.4:p.Pro24Ala
ENST00000220058.8:c.70C>G ENSP00000220058.4:p.Pro24Ala
ENST00000543678.1:c.70C>G ENSP00000443754.1:p.Pro24Ala
ENST00000558460.5:c.70C>G ENSP00000452646.1:p.Pro24Ala
ENST00000558614.1:n.31C>G
ENST00000560717.5:c.55C>G ENSP00000457257.1:p.Pro19Ala
NM_139242.3:c.70C>G NP_640335.2:p.Pro24Ala
XM_005254158.5:c.70C>G XP_005254215.2:p.Pro24Ala
XR_001751081.1:n.85C>G
NM_139242.4:c.70C>G MANE Select NP_640335.2:p.Pro24Ala
Search 100 bp 5'
Search 100 bp 3'