Canonical Allele Identifier: CA2461363
Gene: TASOR HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.56633654G>C , CM000665.2:g.56633654G>C GRCh38
NC_000003.11:g.56667682G>C , CM000665.1:g.56667682G>C GRCh37
NC_000003.10:g.56642722G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000683822.1:c.3137C>G MANE Select ENSP00000508241.1:p.Thr1046Arg
ENST00000355628.9:c.2954C>G ENSP00000347845.5:p.Thr985Arg
ENST00000431842.6:c.1826C>G ENSP00000399410.2:p.Thr609Arg
ENST00000459993.5:n.319C>G
ENST00000493960.6:c.3137C>G ENSP00000417509.2:p.Thr1046Arg
ENST00000614531.1:c.1232C>G ENSP00000483340.1:p.Thr411Arg
NM_001112736.1:c.3137C>G NP_001106207.1:p.Thr1046Arg
NM_015224.3:c.1826C>G NP_056039.2:p.Thr609Arg
XM_005264999.1:c.3137C>G XP_005265056.1:p.Thr1046Arg
XM_006713077.1:c.3014C>G XP_006713140.1:p.Thr1005Arg
XM_006713078.1:c.1949C>G XP_006713141.1:p.Thr650Arg
XM_011533552.1:c.2954C>G XP_011531854.1:p.Thr985Arg
XM_011533553.1:c.2189C>G XP_011531855.1:p.Thr730Arg
NM_001363940.1:c.2954C>G NP_001350869.1:p.Thr985Arg
NM_001365635.1:c.3137C>G NP_001352564.1:p.Thr1046Arg
NM_001365636.1:c.3014C>G NP_001352565.1:p.Thr1005Arg
NM_001365637.1:c.3014C>G NP_001352566.1:p.Thr1005Arg
NM_001365638.1:c.2954C>G NP_001352567.1:p.Thr985Arg
XM_006713078.2:c.1949C>G XP_006713141.1:p.Thr650Arg
NM_001112736.2:c.3137C>G NP_001106207.1:p.Thr1046Arg
NM_001365635.2:c.3137C>G MANE Select NP_001352564.1:p.Thr1046Arg
NM_001365636.2:c.3014C>G NP_001352565.1:p.Thr1005Arg
NM_001365637.2:c.3014C>G NP_001352566.1:p.Thr1005Arg
NM_001365638.2:c.2954C>G NP_001352567.1:p.Thr985Arg