Canonical Allele Identifier: CA1556098
Community Standard Title: NM_022552.5(DNMT3A):c.1243C>T (p.Gln415Ter)
Gene: DNMT3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25246656G>A , CM000664.2:g.25246656G>A GRCh38
NC_000002.11:g.25469525G>A , CM000664.1:g.25469525G>A GRCh37
NC_000002.10:g.25323029G>A NCBI36
NG_029465.2:g.100935C>T , LRG_459:g.100935C>T

Transcript Alleles

HGVS Amino-acid Change
NM_022552.5:c.1243C>T MANE Select NP_072046.2:p.Gln415Ter
ENST00000321117.10:c.1243C>T MANE Select ENSP00000324375.5:p.Gln415Ter
NM_001320893.1:c.787C>T NP_001307822.1:p.Gln263Ter
NM_001375819.1:c.574C>T NP_001362748.1:p.Gln192Ter
NM_022552.4:c.1243C>T , LRG_459t1:c.1243C>T NP_072046.2:p.Gln415Ter
NM_153759.3:c.676C>T , LRG_459t2:c.676C>T NP_715640.2:p.Gln226Ter
NM_175629.2:c.1243C>T , LRG_459t4:c.1243C>T NP_783328.1:p.Gln415Ter
NR_135490.1:n.1581C>T
NR_135490.2:n.1474C>T
ENST00000264709.7:c.1243C>T ENSP00000264709.3:p.Gln415Ter
ENST00000321117.9:c.1243C>T ENSP00000324375.5:p.Gln415Ter
ENST00000380746.8:c.676C>T ENSP00000370122.4:p.Gln226Ter
ENST00000380756.7:c.1243C>T ENSP00000370132.3:p.Gln415Ter
ENST00000402667.1:c.574C>T ENSP00000384237.1:p.Gln192Ter
ENST00000474807.5:n.538C>T
ENST00000683393.1:c.389C>T ENSP00000508654.1:n.389C>T
ENST00000683760.1:c.574C>T ENSP00000507765.1:p.Gln192Ter
XM_005264175.3:c.1243C>T XP_005264232.1:p.Gln415Ter
XM_005264175.5:c.1243C>T XP_005264232.1:p.Gln415Ter
XM_005264177.3:c.574C>T XP_005264234.1:p.Gln192Ter
XM_005264177.4:c.574C>T XP_005264234.1:p.Gln192Ter
XM_006711957.2:c.1243C>T XP_006712020.1:p.Gln415Ter
XM_006711958.2:c.799C>T XP_006712021.1:p.Gln267Ter
XM_011532662.1:c.1096C>T XP_011530964.1:p.Gln366Ter
XM_011532662.2:c.1096C>T XP_011530964.1:p.Gln366Ter
XM_011532663.1:c.1078C>T XP_011530965.1:p.Gln360Ter
XM_011532663.2:c.1078C>T XP_011530965.1:p.Gln360Ter
XM_011532664.1:c.1243C>T XP_011530966.1:p.Gln415Ter
XM_011532664.2:c.1243C>T XP_011530966.1:p.Gln415Ter
XM_011532665.1:c.787C>T XP_011530967.1:p.Gln263Ter
XM_011532666.1:c.715C>T XP_011530968.1:p.Gln239Ter
XM_011532666.2:c.715C>T XP_011530968.1:p.Gln239Ter
XM_011532667.1:c.574C>T XP_011530969.1:p.Gln192Ter
XM_011532667.3:c.574C>T XP_011530969.1:p.Gln192Ter
XM_011532668.1:c.1243C>T XP_011530970.1:p.Gln415Ter
XM_017003526.1:c.1243C>T XP_016859015.1:p.Gln415Ter
XM_017003527.1:c.574C>T XP_016859016.1:p.Gln192Ter
XR_001738657.1:n.1520C>T