Canonical Allele Identifier: CA618956805
Gene: MTFMT HGNC NCBI

Linked Data

dbSNP Id: rs925042441
gnomAD v2: 15-65321964-C-G
gnomAD v3: 15-65029626-C-G
gnomAD v4: 15-65029626-C-G
MyVariant Identifiers: chr15:g.65321964C>G (hg19) chr15:g.65029626C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65029626C>G , CM000677.2:g.65029626C>G GRCh38
NC_000015.9:g.65321964C>G , CM000677.1:g.65321964C>G GRCh37
NC_000015.8:g.63109017C>G NCBI36
NG_029184.1:g.5014G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000220058.9:c.-13G>C MANE Select ENSP00000220058.4:n.-13G>C
ENST00000220058.8:c.-13G>C ENSP00000220058.4:n.-13G>C
ENST00000543678.1:c.-13G>C ENSP00000443754.1:n.-13G>C
NM_139242.3:c.-13G>C NP_640335.2:n.-13G>C
XM_005254158.5:c.-13G>C XP_005254215.2:n.-13G>C
XR_001751081.1:n.3G>C
NM_139242.4:c.-13G>C MANE Select NP_640335.2:n.-13G>C
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