Canonical Allele Identifier: CA343818
Gene: DNAAF11 HGNC NCBI

Linked Data

ClinVar Variation Id: 39797
ClinVar RCV Id: RCV000033019
dbSNP Id: rs397514596

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132656866C>G , CM000670.2:g.132656866C>G GRCh38
NC_000008.10:g.133669112C>G , CM000670.1:g.133669112C>G GRCh37
NC_000008.9:g.133738294C>G NCBI36
NG_033068.1:g.23752G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000620350.5:c.220G>C MANE Select ENSP00000484634.1:p.Ala74Pro
ENST00000250173.5:c.220G>C ENSP00000250173.2:p.Ala74Pro
ENST00000518101.1:n.307G>C
ENST00000518642.5:c.220G>C ENSP00000428610.1:p.Ala74Pro
ENST00000519595.5:c.220G>C ENSP00000429791.1:p.Ala74Pro
ENST00000520446.5:n.319G>C
ENST00000521430.5:n.462G>C
ENST00000522584.5:c.220G>C ENSP00000429811.1:p.Ala74Pro
ENST00000523503.1:n.242+18452G>C
ENST00000618342.1:c.220G>C ENSP00000484802.1:p.Ala74Pro
ENST00000620350.4:c.220G>C ENSP00000484634.1:p.Ala74Pro
NM_012472.4:c.220G>C NP_036604.2:p.Ala74Pro
NR_073525.1:n.344G>C
XM_006716538.2:c.238G>C XP_006716601.2:p.Ala80Pro
XM_011516950.1:c.238G>C XP_011515252.1:p.Ala80Pro
XM_011516951.1:c.238G>C XP_011515253.1:p.Ala80Pro
XM_011516952.1:c.10+18618G>C XP_011515254.1:n.10+18618G>C
XM_011516953.1:c.-141G>C XP_011515255.1:n.-141G>C
XM_011516954.1:c.-204G>C XP_011515256.1:n.-204G>C
XR_428377.2:n.363G>C
NM_001321961.1:c.220G>C NP_001308890.1:p.Ala74Pro
NM_001321962.1:c.10+18618G>C NP_001308891.1:n.10+18618G>C
NM_001321963.1:c.-141G>C NP_001308892.1:n.-141G>C
NM_001321964.1:c.-141G>C NP_001308893.1:n.-141G>C
NM_001321965.1:c.-454G>C NP_001308894.1:n.-454G>C
NM_001321966.1:c.-141G>C NP_001308895.1:n.-141G>C
NM_012472.5:c.220G>C NP_036604.2:p.Ala74Pro
NR_073525.2:n.344G>C
NR_135905.1:n.344G>C
NR_135906.1:n.134+18618G>C
NR_135907.1:n.344G>C
NR_135908.1:n.134+18618G>C
NR_135909.1:n.462G>C
NR_135910.1:n.769G>C
NR_135911.1:n.884+17692G>C
NR_135912.1:n.1094G>C
NR_135913.1:n.1094G>C
XM_006716538.3:c.238G>C XP_006716601.2:p.Ala80Pro
XM_011516950.2:c.238G>C XP_011515252.1:p.Ala80Pro
XM_017013296.1:c.118G>C XP_016868785.1:p.Ala40Pro
XM_017013297.1:c.-141G>C XP_016868786.1:n.-141G>C
XM_017013298.1:c.-245G>C XP_016868787.1:n.-245G>C
NM_012472.6:c.220G>C MANE Select NP_036604.2:p.Ala74Pro
NM_001321961.2:c.220G>C NP_001308890.1:p.Ala74Pro
NM_001321962.2:c.10+18618G>C NP_001308891.1:n.10+18618G>C
NM_001321963.2:c.-141G>C NP_001308892.1:n.-141G>C
NM_001321964.2:c.-141G>C NP_001308893.1:n.-141G>C
NM_001321965.2:c.-454G>C NP_001308894.1:n.-454G>C
NM_001321966.2:c.-141G>C NP_001308895.1:n.-141G>C
NR_073525.3:n.272G>C
NR_135905.2:n.272G>C
NR_135906.2:n.62+18618G>C
NR_135907.2:n.272G>C
NR_135908.2:n.62+18618G>C
NR_135909.2:n.482G>C
NR_135910.2:n.832G>C
NR_135911.2:n.988+17692G>C
NR_135912.2:n.1198G>C
NR_135913.2:n.1198G>C