Canonical Allele Identifier: CA1555737
Community Standard Title: NM_022552.5(DNMT3A):c.2141C>G (p.Ser714Cys)
Gene: DNMT3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25240672G>C , CM000664.2:g.25240672G>C GRCh38
NC_000002.11:g.25463541G>C , CM000664.1:g.25463541G>C GRCh37
NC_000002.10:g.25317045G>C NCBI36
NG_029465.2:g.106919C>G , LRG_459:g.106919C>G

Transcript Alleles

HGVS Amino-acid Change
NM_022552.5:c.2141C>G MANE Select NP_072046.2:p.Ser714Cys
ENST00000321117.10:c.2141C>G MANE Select ENSP00000324375.5:p.Ser714Cys
NM_001320893.1:c.1685C>G NP_001307822.1:p.Ser562Cys
NM_001375819.1:c.1472C>G NP_001362748.1:p.Ser491Cys
NM_022552.4:c.2141C>G , LRG_459t1:c.2141C>G NP_072046.2:p.Ser714Cys
NM_153759.3:c.1574C>G , LRG_459t2:c.1574C>G NP_715640.2:p.Ser525Cys
NM_175629.2:c.2141C>G , LRG_459t4:c.2141C>G NP_783328.1:p.Ser714Cys
NR_135490.1:n.2479C>G
NR_135490.2:n.2372C>G
ENST00000264709.7:c.2141C>G ENSP00000264709.3:p.Ser714Cys
ENST00000321117.9:c.2141C>G ENSP00000324375.5:p.Ser714Cys
ENST00000380746.8:c.1574C>G ENSP00000370122.4:p.Ser525Cys
ENST00000380756.7:c.2141C>G ENSP00000370132.3:p.Ser714Cys
ENST00000402667.1:c.1472C>G ENSP00000384237.1:p.Ser491Cys
ENST00000461228.1:n.360C>G
ENST00000466601.5:n.513C>G
ENST00000474887.5:n.460C>G
ENST00000474887.6:c.460C>G
ENST00000482935.5:n.141C>G
ENST00000491288.5:n.278C>G
ENST00000683393.1:c.1287C>G ENSP00000508654.1:n.1287C>G
ENST00000683760.1:c.1472C>G ENSP00000507765.1:p.Ser491Cys
XM_005264175.3:c.2141C>G XP_005264232.1:p.Ser714Cys
XM_005264175.5:c.2141C>G XP_005264232.1:p.Ser714Cys
XM_005264177.3:c.1472C>G XP_005264234.1:p.Ser491Cys
XM_005264177.4:c.1472C>G XP_005264234.1:p.Ser491Cys
XM_006711957.2:c.2141C>G XP_006712020.1:p.Ser714Cys
XM_006711958.2:c.1697C>G XP_006712021.1:p.Ser566Cys
XM_011532662.1:c.1994C>G XP_011530964.1:p.Ser665Cys
XM_011532662.2:c.1994C>G XP_011530964.1:p.Ser665Cys
XM_011532663.1:c.1976C>G XP_011530965.1:p.Ser659Cys
XM_011532663.2:c.1976C>G XP_011530965.1:p.Ser659Cys
XM_011532664.1:c.2141C>G XP_011530966.1:p.Ser714Cys
XM_011532664.2:c.2141C>G XP_011530966.1:p.Ser714Cys
XM_011532665.1:c.1685C>G XP_011530967.1:p.Ser562Cys
XM_011532666.1:c.1613C>G XP_011530968.1:p.Ser538Cys
XM_011532666.2:c.1613C>G XP_011530968.1:p.Ser538Cys
XM_011532667.1:c.1472C>G XP_011530969.1:p.Ser491Cys
XM_011532667.3:c.1472C>G XP_011530969.1:p.Ser491Cys
XM_011532668.1:c.2141C>G XP_011530970.1:p.Ser714Cys
XM_017003526.1:c.2141C>G XP_016859015.1:p.Ser714Cys
XM_017003527.1:c.1472C>G XP_016859016.1:p.Ser491Cys
XR_001738657.1:n.2418C>G