Canonical Allele Identifier: CA494484898
Gene: TUFM HGNC NCBI

Linked Data

dbSNP Id: rs978939009
MyVariant Identifiers: chr16:g.28856755A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28845434A>T , CM000678.2:g.28845434A>T GRCh38
NC_000016.9:g.28856755A>T , CM000678.1:g.28856755A>T GRCh37
NC_000016.8:g.28764256A>T NCBI36
NG_008964.1:g.5975T>A
NG_029706.2:g.3835A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.294T>A MANE Select ENSP00000322439.3:p.Ile98=
ENST00000313511.7:c.294T>A ENSP00000322439.3:p.Ile98=
ENST00000565012.1:c.248-379T>A ENSP00000455007.1:n.248-379T>A
NM_003321.4:c.294T>A NP_003312.3:p.Ile98=
XM_011545928.1:c.294T>A XP_011544230.1:p.Ile98=
NM_001365360.1:c.294T>A NP_001352289.1:p.Ile98=
NM_003321.5:c.294T>A MANE Select NP_003312.3:p.Ile98=
NM_001365360.2:c.294T>A NP_001352289.1:p.Ile98=