Canonical Allele Identifier: CA618956806
Gene: MTFMT HGNC NCBI

Linked Data

dbSNP Id: rs897472524
gnomAD v2: 15-65321965-G-A
gnomAD v4: 15-65029627-G-A
MyVariant Identifiers: chr15:g.65321965G>A (hg19) chr15:g.65029627G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65029627G>A , CM000677.2:g.65029627G>A GRCh38
NC_000015.9:g.65321965G>A , CM000677.1:g.65321965G>A GRCh37
NC_000015.8:g.63109018G>A NCBI36
NG_029184.1:g.5013C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000220058.9:c.-14C>T MANE Select ENSP00000220058.4:n.-14C>T
ENST00000220058.8:c.-14C>T ENSP00000220058.4:n.-14C>T
ENST00000543678.1:c.-14C>T ENSP00000443754.1:n.-14C>T
NM_139242.3:c.-14C>T NP_640335.2:n.-14C>T
XM_005254158.5:c.-14C>T XP_005254215.2:n.-14C>T
XR_001751081.1:n.2C>T
NM_139242.4:c.-14C>T MANE Select NP_640335.2:n.-14C>T
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