Canonical Allele Identifier: CA494484811
Gene: TUFM HGNC NCBI

Linked Data

dbSNP Id: rs1596603310
MyVariant Identifiers: chr16:g.28856356T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28845035T>G , CM000678.2:g.28845035T>G GRCh38
NC_000016.9:g.28856356T>G , CM000678.1:g.28856356T>G GRCh37
NC_000016.8:g.28763857T>G NCBI36
NG_008964.1:g.6374A>C
NG_029706.2:g.3436T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.435A>C MANE Select ENSP00000322439.3:p.Ala145=
ENST00000313511.7:c.435A>C ENSP00000322439.3:p.Ala145=
ENST00000565012.1:c.268A>C ENSP00000455007.1:p.Thr90Pro
NM_003321.4:c.435A>C NP_003312.3:p.Ala145=
XM_011545928.1:c.435A>C XP_011544230.1:p.Ala145=
NM_001365360.1:c.435A>C NP_001352289.1:p.Ala145=
NM_003321.5:c.435A>C MANE Select NP_003312.3:p.Ala145=
NM_001365360.2:c.435A>C NP_001352289.1:p.Ala145=
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