Canonical Allele Identifier: CA372291956

Gene: DNAAF11

Linked Data

• COSMIC: COSM421733
• MyVariant Identifiers: chr8:g.133584686G>T (hg19) ; chr8:g.132572438G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572438G>T , CM000670.2:g.132572438G>T	GRCh38
NC_000008.10:g.133584686G>T , CM000670.1:g.133584686G>T	GRCh37
NC_000008.9:g.133653868G>T	NCBI36
NG_033068.1:g.108178C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1269C>A MANE Select	ENSP00000484634.1:p.His423Gln
ENST00000250173.5:c.*133C>A	ENSP00000250173.2:n.*133C>A
ENST00000518642.5:c.*133C>A	ENSP00000428610.1:n.*133C>A
ENST00000519595.5:c.1269C>A	ENSP00000429791.1:p.His423Gln
ENST00000522597.1:n.538C>A
ENST00000522789.5:c.489C>A	ENSP00000428015.1:p.His163Gln
ENST00000618342.1:c.1269C>A	ENSP00000484802.1:p.His423Gln
ENST00000620350.4:c.1269C>A	ENSP00000484634.1:p.His423Gln
NM_012472.4:c.1269C>A	NP_036604.2:p.His423Gln
NR_073525.1:n.1493C>A
XM_006716538.2:c.1287C>A	XP_006716601.2:p.His429Gln
XM_011516950.1:c.1227C>A	XP_011515252.1:p.His409Gln
XM_011516952.1:c.1023C>A	XP_011515254.1:p.His341Gln
XM_011516953.1:c.909C>A	XP_011515255.1:p.His303Gln
XM_011516954.1:c.909C>A	XP_011515256.1:p.His303Gln
XR_428377.2:n.1521C>A
NM_001321961.1:c.1209C>A	NP_001308890.1:p.His403Gln
NM_001321962.1:c.1023C>A	NP_001308891.1:p.His341Gln
NM_001321963.1:c.909C>A	NP_001308892.1:p.His303Gln
NM_001321964.1:c.909C>A	NP_001308893.1:p.His303Gln
NM_001321965.1:c.909C>A	NP_001308894.1:p.His303Gln
NM_001321966.1:c.849C>A	NP_001308895.1:p.His283Gln
NM_012472.5:c.1269C>A	NP_036604.2:p.His423Gln
NR_073525.2:n.1493C>A
NR_135905.1:n.1482C>A
NR_135906.1:n.923C>A
NR_135907.1:n.1169C>A
NR_135908.1:n.863C>A
NR_135909.1:n.1287C>A
NR_135910.1:n.1594C>A
NR_135911.1:n.1673C>A
NR_135912.1:n.2232C>A
NR_135913.1:n.1919C>A
XM_006716538.3:c.1287C>A	XP_006716601.2:p.His429Gln
XM_011516950.2:c.1227C>A	XP_011515252.1:p.His409Gln
XM_017013296.1:c.1167C>A	XP_016868785.1:p.His389Gln
XM_017013297.1:c.909C>A	XP_016868786.1:p.His303Gln
XM_017013298.1:c.909C>A	XP_016868787.1:p.His303Gln
NM_012472.6:c.1269C>A MANE Select	NP_036604.2:p.His423Gln
NM_001321961.2:c.1209C>A	NP_001308890.1:p.His403Gln
NM_001321962.2:c.1023C>A	NP_001308891.1:p.His341Gln
NM_001321963.2:c.909C>A	NP_001308892.1:p.His303Gln
NM_001321964.2:c.909C>A	NP_001308893.1:p.His303Gln
NM_001321965.2:c.909C>A	NP_001308894.1:p.His303Gln
NM_001321966.2:c.849C>A	NP_001308895.1:p.His283Gln
NR_073525.3:n.1421C>A
NR_135905.2:n.1410C>A
NR_135906.2:n.851C>A
NR_135907.2:n.1097C>A
NR_135908.2:n.791C>A
NR_135909.2:n.1307C>A
NR_135910.2:n.1657C>A
NR_135911.2:n.1777C>A
NR_135912.2:n.2336C>A
NR_135913.2:n.2023C>A