Canonical Allele Identifier: CA494484854
Gene: TUFM HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.28856686G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28845365G>C , CM000678.2:g.28845365G>C GRCh38
NC_000016.9:g.28856686G>C , CM000678.1:g.28856686G>C GRCh37
NC_000016.8:g.28764187G>C NCBI36
NG_008964.1:g.6044C>G
NG_029706.2:g.3766G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.363C>G MANE Select ENSP00000322439.3:p.Ala121=
ENST00000313511.7:c.363C>G ENSP00000322439.3:p.Ala121=
ENST00000565012.1:c.248-310C>G ENSP00000455007.1:n.248-310C>G
NM_003321.4:c.363C>G NP_003312.3:p.Ala121=
XM_011545928.1:c.363C>G XP_011544230.1:p.Ala121=
NM_001365360.1:c.363C>G NP_001352289.1:p.Ala121=
NM_003321.5:c.363C>G MANE Select NP_003312.3:p.Ala121=
NM_001365360.2:c.363C>G NP_001352289.1:p.Ala121=