Canonical Allele Identifier: CA397934474
Community Standard Title: NM_001005273.3(CHD3):c.107A>T (p.Asp36Val)
Gene: CHD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7889670A>T , CM000679.2:g.7889670A>T GRCh38
NC_000017.10:g.7792988A>T , CM000679.1:g.7792988A>T GRCh37
NC_000017.9:g.7733713A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001005273.3:c.107A>T MANE Select NP_001005273.1:p.Asp36Val
ENST00000330494.12:c.107A>T MANE Select ENSP00000332628.7:p.Asp36Val
NM_001005271.2:c.284A>T NP_001005271.2:p.Asp95Val
NM_001005271.3:c.284A>T NP_001005271.2:p.Asp95Val
NM_001005273.2:c.107A>T NP_001005273.1:p.Asp36Val
NM_005852.3:c.107A>T NP_005843.2:p.Asp36Val
NM_005852.4:c.107A>T NP_005843.2:p.Asp36Val
ENST00000330494.11:c.107A>T ENSP00000332628.7:p.Asp36Val
ENST00000358181.8:c.107A>T ENSP00000350907.4:p.Asp36Val
ENST00000380358.8:c.284A>T ENSP00000369716.4:p.Asp95Val
ENST00000380358.9:c.284A>T ENSP00000369716.4:p.Asp95Val
ENST00000671866.1:n.91A>T
ENST00000672274.1:c.-398A>T ENSP00000500513.1:n.-398A>T
ENST00000672838.1:c.47A>T ENSP00000500734.1:p.Asp16Val
ENST00000700753.1:c.284A>T ENSP00000515165.1:p.Asp95Val
XM_005256427.3:c.284A>T XP_005256484.1:p.Asp95Val
XM_005256427.4:c.284A>T XP_005256484.1:p.Asp95Val
XM_005256428.3:c.284A>T XP_005256485.1:p.Asp95Val
XM_005256428.4:c.284A>T XP_005256485.1:p.Asp95Val
XM_005256429.3:c.284A>T XP_005256486.1:p.Asp95Val
XM_005256429.4:c.284A>T XP_005256486.1:p.Asp95Val
XM_005256431.3:c.284A>T XP_005256488.1:p.Asp95Val
XM_005256431.4:c.284A>T XP_005256488.1:p.Asp95Val
XM_006721423.2:c.284A>T XP_006721486.1:p.Asp95Val
XM_006721423.3:c.284A>T XP_006721486.1:p.Asp95Val
XM_006721424.2:c.284A>T XP_006721487.1:p.Asp95Val
XM_006721424.3:c.284A>T XP_006721487.1:p.Asp95Val
XM_006721425.2:c.14A>T XP_006721488.2:p.Asp5Val
XM_006721427.2:c.47A>T XP_006721490.1:p.Asp16Val
XM_006721428.2:c.284A>T XP_006721491.1:p.Asp95Val
XM_006721428.3:c.284A>T XP_006721491.1:p.Asp95Val
XM_006721430.2:c.284A>T XP_006721493.1:p.Asp95Val
XM_011523628.1:c.74A>T XP_011521930.1:p.Asp25Val
XM_011523629.1:c.74A>T XP_011521931.1:p.Asp25Val
XM_011523630.1:c.14A>T XP_011521932.1:p.Asp5Val
XM_017024061.1:c.284A>T XP_016879550.1:p.Asp95Val
XM_017024062.1:c.284A>T XP_016879551.1:p.Asp95Val
XM_017024063.1:c.107A>T XP_016879552.1:p.Asp36Val
XM_017024064.1:c.284A>T XP_016879553.1:p.Asp95Val
XM_017024065.1:c.284A>T XP_016879554.1:p.Asp95Val
XM_017024066.1:c.47A>T XP_016879555.1:p.Asp16Val
XM_017024067.2:c.74A>T XP_016879556.1:p.Asp25Val
XM_017024068.1:c.47A>T XP_016879557.1:p.Asp16Val
XM_017024069.1:c.-398A>T XP_016879558.1:n.-398A>T
XM_017024070.1:c.284A>T XP_016879559.1:p.Asp95Val