Canonical Allele Identifier: CA2571509
Community Standard Title: NM_001146105.2(PARP9):c.824A>G (p.Asn275Ser)
Gene: PARP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122555347T>C , CM000665.2:g.122555347T>C GRCh38
NC_000003.11:g.122274194T>C , CM000665.1:g.122274194T>C GRCh37
NC_000003.10:g.123756884T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001146105.2:c.824A>G MANE Select NP_001139577.1:p.Asn275Ser
ENST00000682323.1:c.824A>G MANE Select ENSP00000507390.1:p.Asn275Ser
NM_001146102.1:c.929A>G NP_001139574.1:p.Asn310Ser
NM_001146102.2:c.929A>G NP_001139574.1:p.Asn310Ser
NM_001146103.1:c.824A>G NP_001139575.1:p.Asn275Ser
NM_001146103.2:c.824A>G NP_001139575.1:p.Asn275Ser
NM_001146104.1:c.824A>G NP_001139576.1:p.Asn275Ser
NM_001146104.2:c.824A>G NP_001139576.1:p.Asn275Ser
NM_001146105.1:c.824A>G NP_001139577.1:p.Asn275Ser
NM_001146106.1:c.824A>G NP_001139578.1:p.Asn275Ser
NM_001146106.2:c.824A>G NP_001139578.1:p.Asn275Ser
NM_001146106.3:c.824A>G NP_001139578.1:p.Asn275Ser
NM_001387871.1:c.929A>G NP_001374800.1:p.Asn310Ser
NM_001387872.1:c.929A>G NP_001374801.1:p.Asn310Ser
NM_001387873.1:c.863A>G NP_001374802.1:p.Asn288Ser
NM_001387874.1:c.863A>G NP_001374803.1:p.Asn288Ser
NM_001387875.1:c.824A>G NP_001374804.1:p.Asn275Ser
NM_001387876.1:c.824A>G NP_001374805.1:p.Asn275Ser
NM_001387877.1:c.824A>G NP_001374806.1:p.Asn275Ser
NM_001387878.1:c.929A>G NP_001374807.1:p.Asn310Ser
NM_001387879.1:c.929A>G NP_001374808.1:p.Asn310Ser
NM_001387880.1:c.929A>G NP_001374809.1:p.Asn310Ser
NM_001387881.1:c.824A>G NP_001374810.1:p.Asn275Ser
NM_001387882.1:c.824A>G NP_001374811.1:p.Asn275Ser
NM_001387883.1:c.824A>G NP_001374812.1:p.Asn275Ser
NM_001387884.1:c.824A>G NP_001374813.1:p.Asn275Ser
NM_001387885.1:c.824A>G NP_001374814.1:p.Asn275Ser
NM_001387886.1:c.824A>G NP_001374815.1:p.Asn275Ser
NM_001387887.1:c.824A>G NP_001374816.1:p.Asn275Ser
NM_031458.2:c.929A>G NP_113646.2:p.Asn310Ser
NM_031458.3:c.929A>G NP_113646.2:p.Asn310Ser
NR_170857.1:n.1259A>G
NR_170858.1:n.1259A>G
NR_170859.1:n.966A>G
NR_170860.1:n.969A>G
NR_170861.1:n.1071A>G
NR_170862.1:n.969A>G
NR_170863.1:n.969A>G
NR_170864.1:n.969A>G
NR_170865.1:n.1103A>G
ENST00000360356.6:c.929A>G ENSP00000353512.2:p.Asn310Ser
ENST00000462315.5:c.824A>G ENSP00000418894.1:p.Asn275Ser
ENST00000471785.5:c.824A>G ENSP00000419001.1:p.Asn275Ser
ENST00000477522.6:c.824A>G ENSP00000419506.1:p.Asn275Ser
ENST00000492382.5:c.49+3087A>G ENSP00000417664.1:n.49+3087A>G
XM_005247820.1:c.929A>G XP_005247877.1:p.Asn310Ser
XM_005247820.2:c.929A>G XP_005247877.1:p.Asn310Ser
XM_011513218.1:c.929A>G XP_011511520.1:p.Asn310Ser
XM_011513219.1:c.929A>G XP_011511521.1:p.Asn310Ser
XM_017007304.1:c.929A>G XP_016862793.1:p.Asn310Ser
XM_017007305.2:c.824A>G XP_016862794.1:p.Asn275Ser
XM_017007306.1:c.824A>G XP_016862795.1:p.Asn275Ser
XR_001740305.1:n.1046A>G
XR_001740306.2:n.944A>G
XR_001740307.1:n.1046A>G
XR_001740308.2:n.941A>G
XR_001740309.2:n.944A>G
XR_001740869.1:n.676-4543T>C
XR_002959597.1:n.1046A>G