Canonical Allele Identifier: CA494484868
Gene: TUFM HGNC NCBI

Linked Data

dbSNP Id: rs561694852
MyVariant Identifiers: chr16:g.28856710C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28845389C>A , CM000678.2:g.28845389C>A GRCh38
NC_000016.9:g.28856710C>A , CM000678.1:g.28856710C>A GRCh37
NC_000016.8:g.28764211C>A NCBI36
NG_008964.1:g.6020G>T
NG_029706.2:g.3790C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.339G>T MANE Select ENSP00000322439.3:p.Ala113=
ENST00000313511.7:c.339G>T ENSP00000322439.3:p.Ala113=
ENST00000565012.1:c.248-334G>T ENSP00000455007.1:n.248-334G>T
NM_003321.4:c.339G>T NP_003312.3:p.Ala113=
XM_011545928.1:c.339G>T XP_011544230.1:p.Ala113=
NM_001365360.1:c.339G>T NP_001352289.1:p.Ala113=
NM_003321.5:c.339G>T MANE Select NP_003312.3:p.Ala113=
NM_001365360.2:c.339G>T NP_001352289.1:p.Ala113=