Canonical Allele Identifier: CA395417554
Gene: TUFM HGNC NCBI

Linked Data

dbSNP Id: rs1478282908
MyVariant Identifiers: chr16:g.28856307G>C (hg19) chr16:g.28844986G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28844986G>C , CM000678.2:g.28844986G>C GRCh38
NC_000016.9:g.28856307G>C , CM000678.1:g.28856307G>C GRCh37
NC_000016.8:g.28763808G>C NCBI36
NG_008964.1:g.6423C>G
NG_029706.2:g.3387G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.484C>G MANE Select ENSP00000322439.3:p.Pro162Ala
ENST00000313511.7:c.484C>G ENSP00000322439.3:p.Pro162Ala
ENST00000561644.1:n.22C>G
ENST00000565012.1:c.*11C>G ENSP00000455007.1:n.*11C>G
NM_003321.4:c.484C>G NP_003312.3:p.Pro162Ala
XM_011545928.1:c.484C>G XP_011544230.1:p.Pro162Ala
NM_001365360.1:c.484C>G NP_001352289.1:p.Pro162Ala
NM_003321.5:c.484C>G MANE Select NP_003312.3:p.Pro162Ala
NM_001365360.2:c.484C>G NP_001352289.1:p.Pro162Ala
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