Canonical Allele Identifier: CA7985630
Gene: TUFM HGNC NCBI

Linked Data

ClinVar Variation Id: 1530770
ClinVar RCV Id: RCV002092028
dbSNP Id: rs778108863
ExAC: 16:28856323 G / C
gnomAD v2: 16-28856323-G-C
gnomAD v4: 16-28845002-G-C
MyVariant Identifiers: chr16:g.28856323G>C (hg19) chr16:g.28845002G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28845002G>C , CM000678.2:g.28845002G>C GRCh38
NC_000016.9:g.28856323G>C , CM000678.1:g.28856323G>C GRCh37
NC_000016.8:g.28763824G>C NCBI36
NG_008964.1:g.6407C>G
NG_029706.2:g.3403G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.468C>G MANE Select ENSP00000322439.3:p.Ala156=
ENST00000313511.7:c.468C>G ENSP00000322439.3:p.Ala156=
ENST00000561644.1:n.6C>G
ENST00000565012.1:c.301C>G ENSP00000455007.1:p.Gln101Glu
NM_003321.4:c.468C>G NP_003312.3:p.Ala156=
XM_011545928.1:c.468C>G XP_011544230.1:p.Ala156=
NM_001365360.1:c.468C>G NP_001352289.1:p.Ala156=
NM_003321.5:c.468C>G MANE Select NP_003312.3:p.Ala156=
NM_001365360.2:c.468C>G NP_001352289.1:p.Ala156=
Search 100 bp 5'
Search 100 bp 3'