Canonical Allele Identifier: CA372292019

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584715C>G (hg19) ; chr8:g.132572467C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572467C>G , CM000670.2:g.132572467C>G	GRCh38
NC_000008.10:g.133584715C>G , CM000670.1:g.133584715C>G	GRCh37
NC_000008.9:g.133653897C>G	NCBI36
NG_033068.1:g.108149G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000620350.5:c.1240G>C MANE Select	ENSP00000484634.1:p.Glu414Gln
ENST00000250173.5:c.*104G>C	ENSP00000250173.2:n.*104G>C
ENST00000518642.5:c.*104G>C	ENSP00000428610.1:n.*104G>C
ENST00000519595.5:c.1240G>C	ENSP00000429791.1:p.Glu414Gln
ENST00000522597.1:n.509G>C
ENST00000522789.5:c.460G>C	ENSP00000428015.1:p.Glu154Gln
ENST00000618342.1:c.1240G>C	ENSP00000484802.1:p.Glu414Gln
ENST00000620350.4:c.1240G>C	ENSP00000484634.1:p.Glu414Gln
NM_012472.4:c.1240G>C	NP_036604.2:p.Glu414Gln
NR_073525.1:n.1464G>C
XM_006716538.2:c.1258G>C	XP_006716601.2:p.Glu420Gln
XM_011516950.1:c.1198G>C	XP_011515252.1:p.Glu400Gln
XM_011516952.1:c.994G>C	XP_011515254.1:p.Glu332Gln
XM_011516953.1:c.880G>C	XP_011515255.1:p.Glu294Gln
XM_011516954.1:c.880G>C	XP_011515256.1:p.Glu294Gln
XR_428377.2:n.1492G>C
NM_001321961.1:c.1180G>C	NP_001308890.1:p.Glu394Gln
NM_001321962.1:c.994G>C	NP_001308891.1:p.Glu332Gln
NM_001321963.1:c.880G>C	NP_001308892.1:p.Glu294Gln
NM_001321964.1:c.880G>C	NP_001308893.1:p.Glu294Gln
NM_001321965.1:c.880G>C	NP_001308894.1:p.Glu294Gln
NM_001321966.1:c.820G>C	NP_001308895.1:p.Glu274Gln
NM_012472.5:c.1240G>C	NP_036604.2:p.Glu414Gln
NR_073525.2:n.1464G>C
NR_135905.1:n.1453G>C
NR_135906.1:n.894G>C
NR_135907.1:n.1140G>C
NR_135908.1:n.834G>C
NR_135909.1:n.1258G>C
NR_135910.1:n.1565G>C
NR_135911.1:n.1644G>C
NR_135912.1:n.2203G>C
NR_135913.1:n.1890G>C
XM_006716538.3:c.1258G>C	XP_006716601.2:p.Glu420Gln
XM_011516950.2:c.1198G>C	XP_011515252.1:p.Glu400Gln
XM_017013296.1:c.1138G>C	XP_016868785.1:p.Glu380Gln
XM_017013297.1:c.880G>C	XP_016868786.1:p.Glu294Gln
XM_017013298.1:c.880G>C	XP_016868787.1:p.Glu294Gln
NM_012472.6:c.1240G>C MANE Select	NP_036604.2:p.Glu414Gln
NM_001321961.2:c.1180G>C	NP_001308890.1:p.Glu394Gln
NM_001321962.2:c.994G>C	NP_001308891.1:p.Glu332Gln
NM_001321963.2:c.880G>C	NP_001308892.1:p.Glu294Gln
NM_001321964.2:c.880G>C	NP_001308893.1:p.Glu294Gln
NM_001321965.2:c.880G>C	NP_001308894.1:p.Glu294Gln
NM_001321966.2:c.820G>C	NP_001308895.1:p.Glu274Gln
NR_073525.3:n.1392G>C
NR_135905.2:n.1381G>C
NR_135906.2:n.822G>C
NR_135907.2:n.1068G>C
NR_135908.2:n.762G>C
NR_135909.2:n.1278G>C
NR_135910.2:n.1628G>C
NR_135911.2:n.1748G>C
NR_135912.2:n.2307G>C
NR_135913.2:n.1994G>C