Canonical Allele Identifier: CA494484917
Gene: TUFM HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.28856797T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28845476T>C , CM000678.2:g.28845476T>C GRCh38
NC_000016.9:g.28856797T>C , CM000678.1:g.28856797T>C GRCh37
NC_000016.8:g.28764298T>C NCBI36
NG_008964.1:g.5933A>G
NG_029706.2:g.3877T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.252A>G MANE Select ENSP00000322439.3:p.Leu84=
ENST00000313511.7:c.252A>G ENSP00000322439.3:p.Leu84=
ENST00000565012.1:c.248-421A>G ENSP00000455007.1:n.248-421A>G
NM_003321.4:c.252A>G NP_003312.3:p.Leu84=
XM_011545928.1:c.252A>G XP_011544230.1:p.Leu84=
NM_001365360.1:c.252A>G NP_001352289.1:p.Leu84=
NM_003321.5:c.252A>G MANE Select NP_003312.3:p.Leu84=
NM_001365360.2:c.252A>G NP_001352289.1:p.Leu84=