Canonical Allele Identifier: CA976138434
Gene: TUFM HGNC NCBI

Linked Data

dbSNP Id: rs1961933478
gnomAD v3: 16-28845763-C-T
gnomAD v4: 16-28845763-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28845763C>T , CM000678.2:g.28845763C>T GRCh38
NC_000016.9:g.28857084C>T , CM000678.1:g.28857084C>T GRCh37
NC_000016.8:g.28764585C>T NCBI36
NG_008964.1:g.5646G>A
NG_029706.2:g.4164C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.247+149G>A MANE Select ENSP00000322439.3:n.247+149G>A
ENST00000313511.7:c.247+149G>A ENSP00000322439.3:n.247+149G>A
ENST00000565012.1:c.247+149G>A ENSP00000455007.1:n.247+149G>A
NM_003321.4:c.247+149G>A NP_003312.3:n.247+149G>A
XM_011545928.1:c.247+149G>A XP_011544230.1:n.247+149G>A
NM_001365360.1:c.247+149G>A NP_001352289.1:n.247+149G>A
NM_003321.5:c.247+149G>A MANE Select NP_003312.3:n.247+149G>A
NM_001365360.2:c.247+149G>A NP_001352289.1:n.247+149G>A
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