Canonical Allele Identifier: CA4870998
Gene: TATDN1 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.124493878T>C , CM000670.2:g.124493878T>C GRCh38
NC_000008.10:g.125506119T>C , CM000670.1:g.125506119T>C GRCh37
NC_000008.9:g.125575300T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000276692.11:c.746A>G MANE Select ENSP00000276692.6:p.Glu249Gly
ENST00000276692.10:c.746A>G ENSP00000276692.6:p.Glu249Gly
ENST00000517678.5:c.584A>G ENSP00000430201.1:p.Glu195Gly
ENST00000518485.5:n.581A>G
ENST00000519548.5:c.605A>G ENSP00000428336.1:p.Glu202Gly
ENST00000522810.5:c.854A>G ENSP00000430274.1:p.Glu285Gly
ENST00000522927.5:c.*265A>G ENSP00000431052.1:n.*265A>G
ENST00000523214.5:c.*234A>G ENSP00000428609.1:n.*234A>G
ENST00000523631.5:n.1784A>G
ENST00000630259.1:c.584A>G ENSP00000487380.1:p.Glu195Gly
NM_001146160.1:c.605A>G NP_001139632.1:p.Glu202Gly
NM_032026.3:c.746A>G NP_114415.1:p.Glu249Gly
NR_027427.1:n.900A>G
XM_006716665.2:c.854A>G XP_006716728.1:p.Glu285Gly
XM_006716666.2:c.806A>G XP_006716729.1:p.Glu269Gly
XM_006716667.2:c.755A>G XP_006716730.1:p.Glu252Gly
XM_006716668.2:c.755A>G XP_006716731.1:p.Glu252Gly
XM_006716669.2:c.755A>G XP_006716732.1:p.Glu252Gly
XM_006716670.2:c.713A>G XP_006716733.1:p.Glu238Gly
XM_006716671.2:c.647A>G XP_006716734.1:p.Glu216Gly
XM_011517331.1:c.788A>G XP_011515633.1:p.Glu263Gly
XR_428386.2:n.780A>G
NM_001317889.1:c.854A>G NP_001304818.1:p.Glu285Gly
NM_001317890.1:c.584A>G NP_001304819.1:p.Glu195Gly
NM_001317891.1:c.311A>G NP_001304820.1:p.Glu104Gly
XM_006716666.4:c.806A>G XP_006716729.1:p.Glu269Gly
XM_006716667.3:c.755A>G XP_006716730.1:p.Glu252Gly
XM_006716668.3:c.755A>G XP_006716731.1:p.Glu252Gly
XM_006716669.3:c.755A>G XP_006716732.1:p.Glu252Gly
XM_006716670.3:c.713A>G XP_006716733.1:p.Glu238Gly
XM_006716671.3:c.647A>G XP_006716734.1:p.Glu216Gly
XM_011517331.3:c.788A>G XP_011515633.1:p.Glu263Gly
XM_017013895.2:c.698A>G XP_016869384.1:p.Glu233Gly
XM_017013896.2:c.647A>G XP_016869385.1:p.Glu216Gly
XM_017013897.2:c.647A>G XP_016869386.1:p.Glu216Gly
XM_017013898.2:c.605A>G XP_016869387.1:p.Glu202Gly
XM_024447293.1:c.680A>G XP_024303061.1:p.Glu227Gly
XM_024447294.1:c.647A>G XP_024303062.1:p.Glu216Gly
XM_024447295.1:c.605A>G XP_024303063.1:p.Glu202Gly
XR_428386.4:n.780A>G
NM_032026.4:c.746A>G MANE Select NP_114415.1:p.Glu249Gly