Canonical Allele Identifier: CA4881535
Community Standard Title: NM_012472.6(DNAAF11):c.10+1G>A
Gene: DNAAF11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132675483C>T , CM000670.2:g.132675483C>T GRCh38
NC_000008.10:g.133687729C>T , CM000670.1:g.133687729C>T GRCh37
NC_000008.9:g.133756911C>T NCBI36
NG_033068.1:g.5135G>A

Transcript Alleles

HGVS Amino-acid Change
NM_012472.6:c.10+1G>A MANE Select NP_036604.2:n.10+1G>A
ENST00000620350.5:c.10+1G>A MANE Select ENSP00000484634.1:n.10+1G>A
NM_001321961.1:c.10+1G>A NP_001308890.1:n.10+1G>A
NM_001321961.2:c.10+1G>A NP_001308890.1:n.10+1G>A
NM_001321962.1:c.10+1G>A NP_001308891.1:n.10+1G>A
NM_001321962.2:c.10+1G>A NP_001308891.1:n.10+1G>A
NM_001321963.2:c.-910G>A NP_001308892.1:n.-910G>A
NM_001321964.2:c.-1276G>A NP_001308893.1:n.-1276G>A
NM_001321965.2:c.-1589G>A NP_001308894.1:n.-1589G>A
NM_001321966.1:c.-560G>A NP_001308895.1:n.-560G>A
NM_001321966.2:c.-560G>A NP_001308895.1:n.-560G>A
NM_012472.4:c.10+1G>A NP_036604.2:n.10+1G>A
NM_012472.5:c.10+1G>A NP_036604.2:n.10+1G>A
NR_073525.1:n.134+1G>A
NR_073525.2:n.134+1G>A
NR_073525.3:n.62+1G>A
NR_135905.1:n.134+1G>A
NR_135905.2:n.62+1G>A
NR_135906.1:n.134+1G>A
NR_135906.2:n.62+1G>A
NR_135907.1:n.134+1G>A
NR_135907.2:n.62+1G>A
NR_135908.1:n.134+1G>A
NR_135908.2:n.62+1G>A
NR_135909.1:n.43G>A
NR_135909.2:n.63G>A
NR_135910.2:n.63G>A
NR_135911.2:n.63G>A
NR_135912.2:n.63G>A
NR_135913.2:n.63G>A
ENST00000250173.5:c.10+1G>A ENSP00000250173.2:n.10+1G>A
ENST00000518101.1:n.97+1G>A
ENST00000518642.5:c.10+1G>A ENSP00000428610.1:n.10+1G>A
ENST00000519595.5:c.10+1G>A ENSP00000429791.1:n.10+1G>A
ENST00000520446.5:n.109+1G>A
ENST00000521430.5:n.43G>A
ENST00000522584.5:c.10+1G>A ENSP00000429811.1:n.10+1G>A
ENST00000523503.1:n.77G>A
ENST00000620350.4:c.10+1G>A ENSP00000484634.1:n.10+1G>A
XM_006716538.2:c.28+9459G>A XP_006716601.2:n.28+9459G>A
XM_006716538.3:c.28+9459G>A XP_006716601.2:n.28+9459G>A
XM_011516950.1:c.28+9459G>A XP_011515252.1:n.28+9459G>A
XM_011516950.2:c.28+9459G>A XP_011515252.1:n.28+9459G>A
XM_011516951.1:c.28+9459G>A XP_011515253.1:n.28+9459G>A
XM_011516952.1:c.10+1G>A XP_011515254.1:n.10+1G>A
XM_017013297.1:c.-560G>A XP_016868786.1:n.-560G>A
XM_017013298.1:c.-455+1G>A XP_016868787.1:n.-455+1G>A
XR_428377.2:n.153+9459G>A