Canonical Allele Identifier: CA372294859

Gene: DNAAF11

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132625426G>A , CM000670.2:g.132625426G>A	GRCh38
NC_000008.10:g.133637672G>A , CM000670.1:g.133637672G>A	GRCh37
NC_000008.9:g.133706854G>A	NCBI36
NG_033068.1:g.55192C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012472.6:c.682C>T MANE Select	NP_036604.2:p.Gln228Ter
ENST00000620350.5:c.682C>T MANE Select	ENSP00000484634.1:p.Gln228Ter
NM_001321961.1:c.682C>T	NP_001308890.1:p.Gln228Ter
NM_001321961.2:c.682C>T	NP_001308890.1:p.Gln228Ter
NM_001321962.1:c.436C>T	NP_001308891.1:p.Gln146Ter
NM_001321962.2:c.436C>T	NP_001308891.1:p.Gln146Ter
NM_001321963.1:c.322C>T	NP_001308892.1:p.Gln108Ter
NM_001321963.2:c.322C>T	NP_001308892.1:p.Gln108Ter
NM_001321964.1:c.322C>T	NP_001308893.1:p.Gln108Ter
NM_001321964.2:c.322C>T	NP_001308893.1:p.Gln108Ter
NM_001321965.1:c.322C>T	NP_001308894.1:p.Gln108Ter
NM_001321965.2:c.322C>T	NP_001308894.1:p.Gln108Ter
NM_001321966.1:c.322C>T	NP_001308895.1:p.Gln108Ter
NM_001321966.2:c.322C>T	NP_001308895.1:p.Gln108Ter
NM_012472.4:c.682C>T	NP_036604.2:p.Gln228Ter
NM_012472.5:c.682C>T	NP_036604.2:p.Gln228Ter
NR_073525.1:n.806C>T
NR_073525.2:n.806C>T
NR_073525.3:n.734C>T
NR_135905.1:n.895C>T
NR_135905.2:n.823C>T
NR_135906.1:n.336C>T
NR_135906.2:n.264C>T
NR_135907.1:n.582C>T
NR_135907.2:n.510C>T
NR_135908.1:n.336C>T
NR_135908.2:n.264C>T
NR_135909.1:n.700C>T
NR_135909.2:n.720C>T
NR_135910.1:n.1007C>T
NR_135910.2:n.1070C>T
NR_135911.1:n.1086C>T
NR_135911.2:n.1190C>T
NR_135912.1:n.1645C>T
NR_135912.2:n.1749C>T
NR_135913.1:n.1332C>T
NR_135913.2:n.1436C>T
ENST00000250173.5:c.682C>T	ENSP00000250173.2:p.Gln228Ter
ENST00000518642.5:c.682C>T	ENSP00000428610.1:p.Gln228Ter
ENST00000519595.5:c.682C>T	ENSP00000429791.1:p.Gln228Ter
ENST00000520446.5:n.557C>T
ENST00000523503.1:n.444C>T
ENST00000618342.1:c.682C>T	ENSP00000484802.1:p.Gln228Ter
ENST00000620350.4:c.682C>T	ENSP00000484634.1:p.Gln228Ter
XM_006716538.2:c.700C>T	XP_006716601.2:p.Gln234Ter
XM_006716538.3:c.700C>T	XP_006716601.2:p.Gln234Ter
XM_011516950.1:c.700C>T	XP_011515252.1:p.Gln234Ter
XM_011516950.2:c.700C>T	XP_011515252.1:p.Gln234Ter
XM_011516951.1:c.700C>T	XP_011515253.1:p.Gln234Ter
XM_011516952.1:c.436C>T	XP_011515254.1:p.Gln146Ter
XM_011516953.1:c.322C>T	XP_011515255.1:p.Gln108Ter
XM_011516954.1:c.322C>T	XP_011515256.1:p.Gln108Ter
XM_017013296.1:c.580C>T	XP_016868785.1:p.Gln194Ter
XM_017013297.1:c.322C>T	XP_016868786.1:p.Gln108Ter
XM_017013298.1:c.322C>T	XP_016868787.1:p.Gln108Ter
XR_428377.2:n.825C>T