Canonical Allele Identifier: CA372291712

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584574C>G (hg19) ; chr8:g.132572326C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572326C>G , CM000670.2:g.132572326C>G	GRCh38
NC_000008.10:g.133584574C>G , CM000670.1:g.133584574C>G	GRCh37
NC_000008.9:g.133653756C>G	NCBI36
NG_033068.1:g.108290G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1381G>C MANE Select	ENSP00000484634.1:p.Glu461Gln
ENST00000250173.5:c.*245G>C	ENSP00000250173.2:n.*245G>C
ENST00000518642.5:c.*245G>C	ENSP00000428610.1:n.*245G>C
ENST00000519595.5:c.1381G>C	ENSP00000429791.1:p.Glu461Gln
ENST00000522789.5:c.601G>C	ENSP00000428015.1:p.Glu201Gln
ENST00000618342.1:c.1381G>C	ENSP00000484802.1:p.Glu461Gln
ENST00000620350.4:c.1381G>C	ENSP00000484634.1:p.Glu461Gln
NM_012472.4:c.1381G>C	NP_036604.2:p.Glu461Gln
NR_073525.1:n.1605G>C
XM_006716538.2:c.1399G>C	XP_006716601.2:p.Glu467Gln
XM_011516950.1:c.1339G>C	XP_011515252.1:p.Glu447Gln
XM_011516952.1:c.1135G>C	XP_011515254.1:p.Glu379Gln
XM_011516953.1:c.1021G>C	XP_011515255.1:p.Glu341Gln
XM_011516954.1:c.1021G>C	XP_011515256.1:p.Glu341Gln
XR_428377.2:n.1633G>C
NM_001321961.1:c.1321G>C	NP_001308890.1:p.Glu441Gln
NM_001321962.1:c.1135G>C	NP_001308891.1:p.Glu379Gln
NM_001321963.1:c.1021G>C	NP_001308892.1:p.Glu341Gln
NM_001321964.1:c.1021G>C	NP_001308893.1:p.Glu341Gln
NM_001321965.1:c.1021G>C	NP_001308894.1:p.Glu341Gln
NM_001321966.1:c.961G>C	NP_001308895.1:p.Glu321Gln
NM_012472.5:c.1381G>C	NP_036604.2:p.Glu461Gln
NR_073525.2:n.1605G>C
NR_135905.1:n.1594G>C
NR_135906.1:n.1035G>C
NR_135907.1:n.1281G>C
NR_135908.1:n.975G>C
NR_135909.1:n.1399G>C
NR_135910.1:n.1706G>C
NR_135911.1:n.1785G>C
NR_135912.1:n.2344G>C
NR_135913.1:n.2031G>C
XM_006716538.3:c.1399G>C	XP_006716601.2:p.Glu467Gln
XM_011516950.2:c.1339G>C	XP_011515252.1:p.Glu447Gln
XM_017013296.1:c.1279G>C	XP_016868785.1:p.Glu427Gln
XM_017013297.1:c.1021G>C	XP_016868786.1:p.Glu341Gln
XM_017013298.1:c.1021G>C	XP_016868787.1:p.Glu341Gln
NM_012472.6:c.1381G>C MANE Select	NP_036604.2:p.Glu461Gln
NM_001321961.2:c.1321G>C	NP_001308890.1:p.Glu441Gln
NM_001321962.2:c.1135G>C	NP_001308891.1:p.Glu379Gln
NM_001321963.2:c.1021G>C	NP_001308892.1:p.Glu341Gln
NM_001321964.2:c.1021G>C	NP_001308893.1:p.Glu341Gln
NM_001321965.2:c.1021G>C	NP_001308894.1:p.Glu341Gln
NM_001321966.2:c.961G>C	NP_001308895.1:p.Glu321Gln
NR_073525.3:n.1533G>C
NR_135905.2:n.1522G>C
NR_135906.2:n.963G>C
NR_135907.2:n.1209G>C
NR_135908.2:n.903G>C
NR_135909.2:n.1419G>C
NR_135910.2:n.1769G>C
NR_135911.2:n.1889G>C
NR_135912.2:n.2448G>C
NR_135913.2:n.2135G>C