Canonical Allele Identifier: CA372291904

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584664T>G (hg19) ; chr8:g.132572416T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572416T>G , CM000670.2:g.132572416T>G	GRCh38
NC_000008.10:g.133584664T>G , CM000670.1:g.133584664T>G	GRCh37
NC_000008.9:g.133653846T>G	NCBI36
NG_033068.1:g.108200A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1291A>C MANE Select	ENSP00000484634.1:p.Ile431Leu
ENST00000250173.5:c.*155A>C	ENSP00000250173.2:n.*155A>C
ENST00000518642.5:c.*155A>C	ENSP00000428610.1:n.*155A>C
ENST00000519595.5:c.1291A>C	ENSP00000429791.1:p.Ile431Leu
ENST00000522789.5:c.511A>C	ENSP00000428015.1:p.Ile171Leu
ENST00000618342.1:c.1291A>C	ENSP00000484802.1:p.Ile431Leu
ENST00000620350.4:c.1291A>C	ENSP00000484634.1:p.Ile431Leu
NM_012472.4:c.1291A>C	NP_036604.2:p.Ile431Leu
NR_073525.1:n.1515A>C
XM_006716538.2:c.1309A>C	XP_006716601.2:p.Ile437Leu
XM_011516950.1:c.1249A>C	XP_011515252.1:p.Ile417Leu
XM_011516952.1:c.1045A>C	XP_011515254.1:p.Ile349Leu
XM_011516953.1:c.931A>C	XP_011515255.1:p.Ile311Leu
XM_011516954.1:c.931A>C	XP_011515256.1:p.Ile311Leu
XR_428377.2:n.1543A>C
NM_001321961.1:c.1231A>C	NP_001308890.1:p.Ile411Leu
NM_001321962.1:c.1045A>C	NP_001308891.1:p.Ile349Leu
NM_001321963.1:c.931A>C	NP_001308892.1:p.Ile311Leu
NM_001321964.1:c.931A>C	NP_001308893.1:p.Ile311Leu
NM_001321965.1:c.931A>C	NP_001308894.1:p.Ile311Leu
NM_001321966.1:c.871A>C	NP_001308895.1:p.Ile291Leu
NM_012472.5:c.1291A>C	NP_036604.2:p.Ile431Leu
NR_073525.2:n.1515A>C
NR_135905.1:n.1504A>C
NR_135906.1:n.945A>C
NR_135907.1:n.1191A>C
NR_135908.1:n.885A>C
NR_135909.1:n.1309A>C
NR_135910.1:n.1616A>C
NR_135911.1:n.1695A>C
NR_135912.1:n.2254A>C
NR_135913.1:n.1941A>C
XM_006716538.3:c.1309A>C	XP_006716601.2:p.Ile437Leu
XM_011516950.2:c.1249A>C	XP_011515252.1:p.Ile417Leu
XM_017013296.1:c.1189A>C	XP_016868785.1:p.Ile397Leu
XM_017013297.1:c.931A>C	XP_016868786.1:p.Ile311Leu
XM_017013298.1:c.931A>C	XP_016868787.1:p.Ile311Leu
NM_012472.6:c.1291A>C MANE Select	NP_036604.2:p.Ile431Leu
NM_001321961.2:c.1231A>C	NP_001308890.1:p.Ile411Leu
NM_001321962.2:c.1045A>C	NP_001308891.1:p.Ile349Leu
NM_001321963.2:c.931A>C	NP_001308892.1:p.Ile311Leu
NM_001321964.2:c.931A>C	NP_001308893.1:p.Ile311Leu
NM_001321965.2:c.931A>C	NP_001308894.1:p.Ile311Leu
NM_001321966.2:c.871A>C	NP_001308895.1:p.Ile291Leu
NR_073525.3:n.1443A>C
NR_135905.2:n.1432A>C
NR_135906.2:n.873A>C
NR_135907.2:n.1119A>C
NR_135908.2:n.813A>C
NR_135909.2:n.1329A>C
NR_135910.2:n.1679A>C
NR_135911.2:n.1799A>C
NR_135912.2:n.2358A>C
NR_135913.2:n.2045A>C