Canonical Allele Identifier: CA372291968

Gene: DNAAF11

Linked Data

• gnomAD v4: 8-132572443-T-A
• MyVariant Identifiers: chr8:g.133584691T>A (hg19) ; chr8:g.132572443T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572443T>A , CM000670.2:g.132572443T>A	GRCh38
NC_000008.10:g.133584691T>A , CM000670.1:g.133584691T>A	GRCh37
NC_000008.9:g.133653873T>A	NCBI36
NG_033068.1:g.108173A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1264A>T MANE Select	ENSP00000484634.1:p.Lys422Ter
ENST00000250173.5:c.*128A>T	ENSP00000250173.2:n.*128A>T
ENST00000518642.5:c.*128A>T	ENSP00000428610.1:n.*128A>T
ENST00000519595.5:c.1264A>T	ENSP00000429791.1:p.Lys422Ter
ENST00000522597.1:n.533A>T
ENST00000522789.5:c.484A>T	ENSP00000428015.1:p.Lys162Ter
ENST00000618342.1:c.1264A>T	ENSP00000484802.1:p.Lys422Ter
ENST00000620350.4:c.1264A>T	ENSP00000484634.1:p.Lys422Ter
NM_012472.4:c.1264A>T	NP_036604.2:p.Lys422Ter
NR_073525.1:n.1488A>T
XM_006716538.2:c.1282A>T	XP_006716601.2:p.Lys428Ter
XM_011516950.1:c.1222A>T	XP_011515252.1:p.Lys408Ter
XM_011516952.1:c.1018A>T	XP_011515254.1:p.Lys340Ter
XM_011516953.1:c.904A>T	XP_011515255.1:p.Lys302Ter
XM_011516954.1:c.904A>T	XP_011515256.1:p.Lys302Ter
XR_428377.2:n.1516A>T
NM_001321961.1:c.1204A>T	NP_001308890.1:p.Lys402Ter
NM_001321962.1:c.1018A>T	NP_001308891.1:p.Lys340Ter
NM_001321963.1:c.904A>T	NP_001308892.1:p.Lys302Ter
NM_001321964.1:c.904A>T	NP_001308893.1:p.Lys302Ter
NM_001321965.1:c.904A>T	NP_001308894.1:p.Lys302Ter
NM_001321966.1:c.844A>T	NP_001308895.1:p.Lys282Ter
NM_012472.5:c.1264A>T	NP_036604.2:p.Lys422Ter
NR_073525.2:n.1488A>T
NR_135905.1:n.1477A>T
NR_135906.1:n.918A>T
NR_135907.1:n.1164A>T
NR_135908.1:n.858A>T
NR_135909.1:n.1282A>T
NR_135910.1:n.1589A>T
NR_135911.1:n.1668A>T
NR_135912.1:n.2227A>T
NR_135913.1:n.1914A>T
XM_006716538.3:c.1282A>T	XP_006716601.2:p.Lys428Ter
XM_011516950.2:c.1222A>T	XP_011515252.1:p.Lys408Ter
XM_017013296.1:c.1162A>T	XP_016868785.1:p.Lys388Ter
XM_017013297.1:c.904A>T	XP_016868786.1:p.Lys302Ter
XM_017013298.1:c.904A>T	XP_016868787.1:p.Lys302Ter
NM_012472.6:c.1264A>T MANE Select	NP_036604.2:p.Lys422Ter
NM_001321961.2:c.1204A>T	NP_001308890.1:p.Lys402Ter
NM_001321962.2:c.1018A>T	NP_001308891.1:p.Lys340Ter
NM_001321963.2:c.904A>T	NP_001308892.1:p.Lys302Ter
NM_001321964.2:c.904A>T	NP_001308893.1:p.Lys302Ter
NM_001321965.2:c.904A>T	NP_001308894.1:p.Lys302Ter
NM_001321966.2:c.844A>T	NP_001308895.1:p.Lys282Ter
NR_073525.3:n.1416A>T
NR_135905.2:n.1405A>T
NR_135906.2:n.846A>T
NR_135907.2:n.1092A>T
NR_135908.2:n.786A>T
NR_135909.2:n.1302A>T
NR_135910.2:n.1652A>T
NR_135911.2:n.1772A>T
NR_135912.2:n.2331A>T
NR_135913.2:n.2018A>T