Canonical Allele Identifier: CA395417676
Gene: TUFM HGNC NCBI

Linked Data

gnomAD v4: 16-28845012-A-G
MyVariant Identifiers: chr16:g.28856333A>G (hg19) chr16:g.28845012A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28845012A>G , CM000678.2:g.28845012A>G GRCh38
NC_000016.9:g.28856333A>G , CM000678.1:g.28856333A>G GRCh37
NC_000016.8:g.28763834A>G NCBI36
NG_008964.1:g.6397T>C
NG_029706.2:g.3413A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.458T>C MANE Select ENSP00000322439.3:p.Val153Ala
ENST00000313511.7:c.458T>C ENSP00000322439.3:p.Val153Ala
ENST00000565012.1:c.291T>C ENSP00000455007.1:p.Gly97=
NM_003321.4:c.458T>C NP_003312.3:p.Val153Ala
XM_011545928.1:c.458T>C XP_011544230.1:p.Val153Ala
NM_001365360.1:c.458T>C NP_001352289.1:p.Val153Ala
NM_003321.5:c.458T>C MANE Select NP_003312.3:p.Val153Ala
NM_001365360.2:c.458T>C NP_001352289.1:p.Val153Ala
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