Canonical Allele Identifier: CA372291814

Gene: DNAAF11

Linked Data

• dbSNP Id: rs1814287054
• MyVariant Identifiers: chr8:g.133584619T>G (hg19) ; chr8:g.132572371T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572371T>G , CM000670.2:g.132572371T>G	GRCh38
NC_000008.10:g.133584619T>G , CM000670.1:g.133584619T>G	GRCh37
NC_000008.9:g.133653801T>G	NCBI36
NG_033068.1:g.108245A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1336A>C MANE Select	ENSP00000484634.1:p.Lys446Gln
ENST00000250173.5:c.*200A>C	ENSP00000250173.2:n.*200A>C
ENST00000518642.5:c.*200A>C	ENSP00000428610.1:n.*200A>C
ENST00000519595.5:c.1336A>C	ENSP00000429791.1:p.Lys446Gln
ENST00000522789.5:c.556A>C	ENSP00000428015.1:p.Lys186Gln
ENST00000618342.1:c.1336A>C	ENSP00000484802.1:p.Lys446Gln
ENST00000620350.4:c.1336A>C	ENSP00000484634.1:p.Lys446Gln
NM_012472.4:c.1336A>C	NP_036604.2:p.Lys446Gln
NR_073525.1:n.1560A>C
XM_006716538.2:c.1354A>C	XP_006716601.2:p.Lys452Gln
XM_011516950.1:c.1294A>C	XP_011515252.1:p.Lys432Gln
XM_011516952.1:c.1090A>C	XP_011515254.1:p.Lys364Gln
XM_011516953.1:c.976A>C	XP_011515255.1:p.Lys326Gln
XM_011516954.1:c.976A>C	XP_011515256.1:p.Lys326Gln
XR_428377.2:n.1588A>C
NM_001321961.1:c.1276A>C	NP_001308890.1:p.Lys426Gln
NM_001321962.1:c.1090A>C	NP_001308891.1:p.Lys364Gln
NM_001321963.1:c.976A>C	NP_001308892.1:p.Lys326Gln
NM_001321964.1:c.976A>C	NP_001308893.1:p.Lys326Gln
NM_001321965.1:c.976A>C	NP_001308894.1:p.Lys326Gln
NM_001321966.1:c.916A>C	NP_001308895.1:p.Lys306Gln
NM_012472.5:c.1336A>C	NP_036604.2:p.Lys446Gln
NR_073525.2:n.1560A>C
NR_135905.1:n.1549A>C
NR_135906.1:n.990A>C
NR_135907.1:n.1236A>C
NR_135908.1:n.930A>C
NR_135909.1:n.1354A>C
NR_135910.1:n.1661A>C
NR_135911.1:n.1740A>C
NR_135912.1:n.2299A>C
NR_135913.1:n.1986A>C
XM_006716538.3:c.1354A>C	XP_006716601.2:p.Lys452Gln
XM_011516950.2:c.1294A>C	XP_011515252.1:p.Lys432Gln
XM_017013296.1:c.1234A>C	XP_016868785.1:p.Lys412Gln
XM_017013297.1:c.976A>C	XP_016868786.1:p.Lys326Gln
XM_017013298.1:c.976A>C	XP_016868787.1:p.Lys326Gln
NM_012472.6:c.1336A>C MANE Select	NP_036604.2:p.Lys446Gln
NM_001321961.2:c.1276A>C	NP_001308890.1:p.Lys426Gln
NM_001321962.2:c.1090A>C	NP_001308891.1:p.Lys364Gln
NM_001321963.2:c.976A>C	NP_001308892.1:p.Lys326Gln
NM_001321964.2:c.976A>C	NP_001308893.1:p.Lys326Gln
NM_001321965.2:c.976A>C	NP_001308894.1:p.Lys326Gln
NM_001321966.2:c.916A>C	NP_001308895.1:p.Lys306Gln
NR_073525.3:n.1488A>C
NR_135905.2:n.1477A>C
NR_135906.2:n.918A>C
NR_135907.2:n.1164A>C
NR_135908.2:n.858A>C
NR_135909.2:n.1374A>C
NR_135910.2:n.1724A>C
NR_135911.2:n.1844A>C
NR_135912.2:n.2403A>C
NR_135913.2:n.2090A>C