Canonical Allele Identifier: CA4881488

Gene: DNAAF11

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132661607G>A , CM000670.2:g.132661607G>A	GRCh38
NC_000008.10:g.133673853G>A , CM000670.1:g.133673853G>A	GRCh37
NC_000008.9:g.133743035G>A	NCBI36
NG_033068.1:g.19011C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012472.6:c.31C>T MANE Select	NP_036604.2:p.Arg11Trp
ENST00000620350.5:c.31C>T MANE Select	ENSP00000484634.1:p.Arg11Trp
NM_001321961.1:c.31C>T	NP_001308890.1:p.Arg11Trp
NM_001321961.2:c.31C>T	NP_001308890.1:p.Arg11Trp
NM_001321962.1:c.10+13877C>T	NP_001308891.1:n.10+13877C>T
NM_001321962.2:c.10+13877C>T	NP_001308891.1:n.10+13877C>T
NM_001321963.1:c.-330C>T	NP_001308892.1:n.-330C>T
NM_001321963.2:c.-330C>T	NP_001308892.1:n.-330C>T
NM_001321964.1:c.-330C>T	NP_001308893.1:n.-330C>T
NM_001321964.2:c.-330C>T	NP_001308893.1:n.-330C>T
NM_001321965.1:c.-643C>T	NP_001308894.1:n.-643C>T
NM_001321965.2:c.-643C>T	NP_001308894.1:n.-643C>T
NM_001321966.1:c.-330C>T	NP_001308895.1:n.-330C>T
NM_001321966.2:c.-330C>T	NP_001308895.1:n.-330C>T
NM_012472.4:c.31C>T	NP_036604.2:p.Arg11Trp
NM_012472.5:c.31C>T	NP_036604.2:p.Arg11Trp
NR_073525.1:n.155C>T
NR_073525.2:n.155C>T
NR_073525.3:n.83C>T
NR_135905.1:n.155C>T
NR_135905.2:n.83C>T
NR_135906.1:n.134+13877C>T
NR_135906.2:n.62+13877C>T
NR_135907.1:n.155C>T
NR_135907.2:n.83C>T
NR_135908.1:n.134+13877C>T
NR_135908.2:n.62+13877C>T
NR_135909.1:n.273C>T
NR_135909.2:n.293C>T
NR_135910.1:n.580C>T
NR_135910.2:n.643C>T
NR_135911.1:n.884+12951C>T
NR_135911.2:n.988+12951C>T
NR_135912.1:n.905C>T
NR_135912.2:n.1009C>T
NR_135913.1:n.905C>T
NR_135913.2:n.1009C>T
ENST00000250173.5:c.31C>T	ENSP00000250173.2:p.Arg11Trp
ENST00000518101.1:n.118C>T
ENST00000518642.5:c.31C>T	ENSP00000428610.1:p.Arg11Trp
ENST00000519595.5:c.31C>T	ENSP00000429791.1:p.Arg11Trp
ENST00000520446.5:n.130C>T
ENST00000521430.5:n.273C>T
ENST00000522584.5:c.31C>T	ENSP00000429811.1:p.Arg11Trp
ENST00000523503.1:n.242+13711C>T
ENST00000618342.1:c.31C>T	ENSP00000484802.1:p.Arg11Trp
ENST00000620350.4:c.31C>T	ENSP00000484634.1:p.Arg11Trp
XM_006716538.2:c.49C>T	XP_006716601.2:p.Arg17Trp
XM_006716538.3:c.49C>T	XP_006716601.2:p.Arg17Trp
XM_011516950.1:c.49C>T	XP_011515252.1:p.Arg17Trp
XM_011516950.2:c.49C>T	XP_011515252.1:p.Arg17Trp
XM_011516951.1:c.49C>T	XP_011515253.1:p.Arg17Trp
XM_011516952.1:c.10+13877C>T	XP_011515254.1:n.10+13877C>T
XM_011516953.1:c.-330C>T	XP_011515255.1:n.-330C>T
XM_017013297.1:c.-330C>T	XP_016868786.1:n.-330C>T
XM_017013298.1:c.-434C>T	XP_016868787.1:n.-434C>T
XR_428377.2:n.174C>T