Canonical Allele Identifier: CA271504873
Gene: MTFMT HGNC NCBI

Linked Data

ClinVar Variation Id: 2210992
ClinVar RCV Id: RCV002677033
dbSNP Id: rs993637538
gnomAD v2: 15-65321920-G-A
gnomAD v3: 15-65029582-G-A
gnomAD v4: 15-65029582-G-A
MyVariant Identifiers: chr15:g.65321920G>A (hg19) chr15:g.65029582G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65029582G>A , CM000677.2:g.65029582G>A GRCh38
NC_000015.9:g.65321920G>A , CM000677.1:g.65321920G>A GRCh37
NC_000015.8:g.63108973G>A NCBI36
NG_029184.1:g.5058C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000220058.9:c.32C>T MANE Select ENSP00000220058.4:p.Pro11Leu
ENST00000220058.8:c.32C>T ENSP00000220058.4:p.Pro11Leu
ENST00000543678.1:c.32C>T ENSP00000443754.1:p.Pro11Leu
ENST00000558460.5:c.32C>T ENSP00000452646.1:p.Pro11Leu
ENST00000560717.5:c.17C>T ENSP00000457257.1:p.Pro6Leu
NM_139242.3:c.32C>T NP_640335.2:p.Pro11Leu
XM_005254158.5:c.32C>T XP_005254215.2:p.Pro11Leu
XR_001751081.1:n.47C>T
NM_139242.4:c.32C>T MANE Select NP_640335.2:p.Pro11Leu
Search 100 bp 5'
Search 100 bp 3'