Canonical Allele Identifier: CA4881197

Gene: DNAAF11

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132611314G>A , CM000670.2:g.132611314G>A	GRCh38
NC_000008.10:g.133623560G>A , CM000670.1:g.133623560G>A	GRCh37
NC_000008.9:g.133692742G>A	NCBI36
NG_033068.1:g.69304C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012472.6:c.1024C>T MANE Select	NP_036604.2:p.Arg342Ter
ENST00000620350.5:c.1024C>T MANE Select	ENSP00000484634.1:p.Arg342Ter
NM_001321961.1:c.964C>T	NP_001308890.1:p.Arg322Ter
NM_001321961.2:c.964C>T	NP_001308890.1:p.Arg322Ter
NM_001321962.1:c.778C>T	NP_001308891.1:p.Arg260Ter
NM_001321962.2:c.778C>T	NP_001308891.1:p.Arg260Ter
NM_001321963.1:c.664C>T	NP_001308892.1:p.Arg222Ter
NM_001321963.2:c.664C>T	NP_001308892.1:p.Arg222Ter
NM_001321964.1:c.664C>T	NP_001308893.1:p.Arg222Ter
NM_001321964.2:c.664C>T	NP_001308893.1:p.Arg222Ter
NM_001321965.1:c.664C>T	NP_001308894.1:p.Arg222Ter
NM_001321965.2:c.664C>T	NP_001308894.1:p.Arg222Ter
NM_001321966.1:c.604C>T	NP_001308895.1:p.Arg202Ter
NM_001321966.2:c.604C>T	NP_001308895.1:p.Arg202Ter
NM_012472.4:c.1024C>T	NP_036604.2:p.Arg342Ter
NM_012472.5:c.1024C>T	NP_036604.2:p.Arg342Ter
NR_073525.1:n.1148C>T
NR_073525.2:n.1148C>T
NR_073525.3:n.1076C>T
NR_135905.1:n.1237C>T
NR_135905.2:n.1165C>T
NR_135906.1:n.678C>T
NR_135906.2:n.606C>T
NR_135907.1:n.924C>T
NR_135907.2:n.852C>T
NR_135908.1:n.618C>T
NR_135908.2:n.546C>T
NR_135909.1:n.1042C>T
NR_135909.2:n.1062C>T
NR_135910.1:n.1349C>T
NR_135910.2:n.1412C>T
NR_135911.1:n.1428C>T
NR_135911.2:n.1532C>T
NR_135912.1:n.1987C>T
NR_135912.2:n.2091C>T
NR_135913.1:n.1674C>T
NR_135913.2:n.1778C>T
ENST00000250173.5:c.1024C>T	ENSP00000250173.2:p.Arg342Ter
ENST00000518642.5:c.1024C>T	ENSP00000428610.1:p.Arg342Ter
ENST00000519085.5:c.188C>T
ENST00000519595.5:c.1024C>T	ENSP00000429791.1:p.Arg342Ter
ENST00000522597.1:n.293C>T
ENST00000522789.5:c.244C>T	ENSP00000428015.1:p.Arg82Ter
ENST00000618342.1:c.1024C>T	ENSP00000484802.1:p.Arg342Ter
ENST00000620350.4:c.1024C>T	ENSP00000484634.1:p.Arg342Ter
XM_006716538.2:c.1042C>T	XP_006716601.2:p.Arg348Ter
XM_006716538.3:c.1042C>T	XP_006716601.2:p.Arg348Ter
XM_011516950.1:c.982C>T	XP_011515252.1:p.Arg328Ter
XM_011516950.2:c.982C>T	XP_011515252.1:p.Arg328Ter
XM_011516951.1:c.1042C>T	XP_011515253.1:p.Arg348Ter
XM_011516952.1:c.778C>T	XP_011515254.1:p.Arg260Ter
XM_011516953.1:c.664C>T	XP_011515255.1:p.Arg222Ter
XM_011516954.1:c.664C>T	XP_011515256.1:p.Arg222Ter
XM_017013296.1:c.922C>T	XP_016868785.1:p.Arg308Ter
XM_017013297.1:c.664C>T	XP_016868786.1:p.Arg222Ter
XM_017013298.1:c.664C>T	XP_016868787.1:p.Arg222Ter
XR_428377.2:n.1167C>T