Canonical Allele Identifier: CA2632531046
Gene: TUFM HGNC NCBI

Linked Data

gnomAD v4: 16-28844915-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28844915T>G , CM000678.2:g.28844915T>G GRCh38
NC_000016.9:g.28856236T>G , CM000678.1:g.28856236T>G GRCh37
NC_000016.8:g.28763737T>G NCBI36
NG_008964.1:g.6494A>C
NG_029706.2:g.3316T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.519+36A>C MANE Select ENSP00000322439.3:n.519+36A>C
ENST00000313511.7:c.519+36A>C ENSP00000322439.3:n.519+36A>C
ENST00000561644.1:n.57+36A>C
ENST00000565012.1:c.*46+36A>C ENSP00000455007.1:n.*46+36A>C
NM_003321.4:c.519+36A>C NP_003312.3:n.519+36A>C
XM_011545928.1:c.519+36A>C XP_011544230.1:n.519+36A>C
NM_001365360.1:c.519+36A>C NP_001352289.1:n.519+36A>C
NM_003321.5:c.519+36A>C MANE Select NP_003312.3:n.519+36A>C
NM_001365360.2:c.519+36A>C NP_001352289.1:n.519+36A>C
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