Canonical Allele Identifier: CA372293485
Community Standard Title: NM_012472.6(DNAAF11):c.974+1G>T
Gene: DNAAF11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132615037C>A , CM000670.2:g.132615037C>A GRCh38
NC_000008.10:g.133627283C>A , CM000670.1:g.133627283C>A GRCh37
NC_000008.9:g.133696465C>A NCBI36
NG_033068.1:g.65581G>T

Transcript Alleles

HGVS Amino-acid Change
NM_012472.6:c.974+1G>T MANE Select NP_036604.2:n.974+1G>T
ENST00000620350.5:c.974+1G>T MANE Select ENSP00000484634.1:n.974+1G>T
NM_001321961.1:c.915-3674G>T NP_001308890.1:n.915-3674G>T
NM_001321961.2:c.915-3674G>T NP_001308890.1:n.915-3674G>T
NM_001321962.1:c.728+1G>T NP_001308891.1:n.728+1G>T
NM_001321962.2:c.728+1G>T NP_001308891.1:n.728+1G>T
NM_001321963.1:c.614+1G>T NP_001308892.1:n.614+1G>T
NM_001321963.2:c.614+1G>T NP_001308892.1:n.614+1G>T
NM_001321964.1:c.614+1G>T NP_001308893.1:n.614+1G>T
NM_001321964.2:c.614+1G>T NP_001308893.1:n.614+1G>T
NM_001321965.1:c.614+1G>T NP_001308894.1:n.614+1G>T
NM_001321965.2:c.614+1G>T NP_001308894.1:n.614+1G>T
NM_001321966.1:c.555-3674G>T NP_001308895.1:n.555-3674G>T
NM_001321966.2:c.555-3674G>T NP_001308895.1:n.555-3674G>T
NM_012472.4:c.974+1G>T NP_036604.2:n.974+1G>T
NM_012472.5:c.974+1G>T NP_036604.2:n.974+1G>T
NR_073525.1:n.1098+1G>T
NR_073525.2:n.1098+1G>T
NR_073525.3:n.1026+1G>T
NR_135905.1:n.1187+1G>T
NR_135905.2:n.1115+1G>T
NR_135906.1:n.628+1G>T
NR_135906.2:n.556+1G>T
NR_135907.1:n.874+1G>T
NR_135907.2:n.802+1G>T
NR_135908.1:n.569-3674G>T
NR_135908.2:n.497-3674G>T
NR_135909.1:n.992+1G>T
NR_135909.2:n.1012+1G>T
NR_135910.1:n.1299+1G>T
NR_135910.2:n.1362+1G>T
NR_135911.1:n.1378+1G>T
NR_135911.2:n.1482+1G>T
NR_135912.1:n.1937+1G>T
NR_135912.2:n.2041+1G>T
NR_135913.1:n.1624+1G>T
NR_135913.2:n.1728+1G>T
ENST00000250173.5:c.974+1G>T ENSP00000250173.2:n.974+1G>T
ENST00000518642.5:c.974+1G>T ENSP00000428610.1:n.974+1G>T
ENST00000519085.5:c.138+1G>T
ENST00000519595.5:c.974+1G>T ENSP00000429791.1:n.974+1G>T
ENST00000522597.1:n.243+1G>T
ENST00000522789.5:c.195-3674G>T ENSP00000428015.1:n.195-3674G>T
ENST00000618342.1:c.974+1G>T ENSP00000484802.1:n.974+1G>T
ENST00000620350.4:c.974+1G>T ENSP00000484634.1:n.974+1G>T
XM_006716538.2:c.992+1G>T XP_006716601.2:n.992+1G>T
XM_006716538.3:c.992+1G>T XP_006716601.2:n.992+1G>T
XM_011516950.1:c.933-3674G>T XP_011515252.1:n.933-3674G>T
XM_011516950.2:c.933-3674G>T XP_011515252.1:n.933-3674G>T
XM_011516951.1:c.992+1G>T XP_011515253.1:n.992+1G>T
XM_011516952.1:c.728+1G>T XP_011515254.1:n.728+1G>T
XM_011516953.1:c.614+1G>T XP_011515255.1:n.614+1G>T
XM_011516954.1:c.614+1G>T XP_011515256.1:n.614+1G>T
XM_017013296.1:c.872+1G>T XP_016868785.1:n.872+1G>T
XM_017013297.1:c.614+1G>T XP_016868786.1:n.614+1G>T
XM_017013298.1:c.614+1G>T XP_016868787.1:n.614+1G>T
XR_428377.2:n.1117+1G>T