Canonical Allele Identifier: CA7985543
Gene: TUFM HGNC NCBI

Linked Data

ClinVar Variation Id: 318748
ClinVar RCV Id: RCV000309536 RCV001549786
dbSNP Id: rs138917503
ExAC: 16:28855797 C / T
gnomAD v2: 16-28855797-C-T
gnomAD v3: 16-28844476-C-T
gnomAD v4: 16-28844476-C-T
MyVariant Identifiers: chr16:g.28855797C>T (hg19) chr16:g.28844476C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28844476C>T , CM000678.2:g.28844476C>T GRCh38
NC_000016.9:g.28855797C>T , CM000678.1:g.28855797C>T GRCh37
NC_000016.8:g.28763298C>T NCBI36
NG_008964.1:g.6933G>A
NG_029706.2:g.2877C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.760G>A MANE Select ENSP00000322439.3:p.Ala254Thr
ENST00000313511.7:c.760G>A ENSP00000322439.3:p.Ala254Thr
ENST00000565012.1:c.*287G>A ENSP00000455007.1:n.*287G>A
NM_003321.4:c.760G>A NP_003312.3:p.Ala254Thr
XM_011545928.1:c.760G>A XP_011544230.1:p.Ala254Thr
NM_001365360.1:c.760G>A NP_001352289.1:p.Ala254Thr
NM_003321.5:c.760G>A MANE Select NP_003312.3:p.Ala254Thr
NM_001365360.2:c.760G>A NP_001352289.1:p.Ala254Thr
Search 100 bp 5'
Search 100 bp 3'