Canonical Allele Identifier: CA7985677
Gene: TUFM HGNC NCBI

Linked Data

dbSNP Id: rs748087749
ExAC: 16:28856726 C / G
gnomAD v2: 16-28856726-C-G
gnomAD v3: 16-28845405-C-G
gnomAD v4: 16-28845405-C-G
MyVariant Identifiers: chr16:g.28856726C>G (hg19) chr16:g.28845405C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28845405C>G , CM000678.2:g.28845405C>G GRCh38
NC_000016.9:g.28856726C>G , CM000678.1:g.28856726C>G GRCh37
NC_000016.8:g.28764227C>G NCBI36
NG_008964.1:g.6004G>C
NG_029706.2:g.3806C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.323G>C MANE Select ENSP00000322439.3:p.Gly108Ala
ENST00000313511.7:c.323G>C ENSP00000322439.3:p.Gly108Ala
ENST00000565012.1:c.248-350G>C ENSP00000455007.1:n.248-350G>C
NM_003321.4:c.323G>C NP_003312.3:p.Gly108Ala
XM_011545928.1:c.323G>C XP_011544230.1:p.Gly108Ala
NM_001365360.1:c.323G>C NP_001352289.1:p.Gly108Ala
NM_003321.5:c.323G>C MANE Select NP_003312.3:p.Gly108Ala
NM_001365360.2:c.323G>C NP_001352289.1:p.Gly108Ala
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