Canonical Allele Identifier: CA372291930

Gene: DNAAF11

Linked Data

• dbSNP Id: rs1814298747
• gnomAD v4: 8-132572427-T-C
• MyVariant Identifiers: chr8:g.133584675T>C (hg19) ; chr8:g.132572427T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572427T>C , CM000670.2:g.132572427T>C	GRCh38
NC_000008.10:g.133584675T>C , CM000670.1:g.133584675T>C	GRCh37
NC_000008.9:g.133653857T>C	NCBI36
NG_033068.1:g.108189A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1280A>G MANE Select	ENSP00000484634.1:p.Asp427Gly
ENST00000250173.5:c.*144A>G	ENSP00000250173.2:n.*144A>G
ENST00000518642.5:c.*144A>G	ENSP00000428610.1:n.*144A>G
ENST00000519595.5:c.1280A>G	ENSP00000429791.1:p.Asp427Gly
ENST00000522597.1:n.549A>G
ENST00000522789.5:c.500A>G	ENSP00000428015.1:p.Asp167Gly
ENST00000618342.1:c.1280A>G	ENSP00000484802.1:p.Asp427Gly
ENST00000620350.4:c.1280A>G	ENSP00000484634.1:p.Asp427Gly
NM_012472.4:c.1280A>G	NP_036604.2:p.Asp427Gly
NR_073525.1:n.1504A>G
XM_006716538.2:c.1298A>G	XP_006716601.2:p.Asp433Gly
XM_011516950.1:c.1238A>G	XP_011515252.1:p.Asp413Gly
XM_011516952.1:c.1034A>G	XP_011515254.1:p.Asp345Gly
XM_011516953.1:c.920A>G	XP_011515255.1:p.Asp307Gly
XM_011516954.1:c.920A>G	XP_011515256.1:p.Asp307Gly
XR_428377.2:n.1532A>G
NM_001321961.1:c.1220A>G	NP_001308890.1:p.Asp407Gly
NM_001321962.1:c.1034A>G	NP_001308891.1:p.Asp345Gly
NM_001321963.1:c.920A>G	NP_001308892.1:p.Asp307Gly
NM_001321964.1:c.920A>G	NP_001308893.1:p.Asp307Gly
NM_001321965.1:c.920A>G	NP_001308894.1:p.Asp307Gly
NM_001321966.1:c.860A>G	NP_001308895.1:p.Asp287Gly
NM_012472.5:c.1280A>G	NP_036604.2:p.Asp427Gly
NR_073525.2:n.1504A>G
NR_135905.1:n.1493A>G
NR_135906.1:n.934A>G
NR_135907.1:n.1180A>G
NR_135908.1:n.874A>G
NR_135909.1:n.1298A>G
NR_135910.1:n.1605A>G
NR_135911.1:n.1684A>G
NR_135912.1:n.2243A>G
NR_135913.1:n.1930A>G
XM_006716538.3:c.1298A>G	XP_006716601.2:p.Asp433Gly
XM_011516950.2:c.1238A>G	XP_011515252.1:p.Asp413Gly
XM_017013296.1:c.1178A>G	XP_016868785.1:p.Asp393Gly
XM_017013297.1:c.920A>G	XP_016868786.1:p.Asp307Gly
XM_017013298.1:c.920A>G	XP_016868787.1:p.Asp307Gly
NM_012472.6:c.1280A>G MANE Select	NP_036604.2:p.Asp427Gly
NM_001321961.2:c.1220A>G	NP_001308890.1:p.Asp407Gly
NM_001321962.2:c.1034A>G	NP_001308891.1:p.Asp345Gly
NM_001321963.2:c.920A>G	NP_001308892.1:p.Asp307Gly
NM_001321964.2:c.920A>G	NP_001308893.1:p.Asp307Gly
NM_001321965.2:c.920A>G	NP_001308894.1:p.Asp307Gly
NM_001321966.2:c.860A>G	NP_001308895.1:p.Asp287Gly
NR_073525.3:n.1432A>G
NR_135905.2:n.1421A>G
NR_135906.2:n.862A>G
NR_135907.2:n.1108A>G
NR_135908.2:n.802A>G
NR_135909.2:n.1318A>G
NR_135910.2:n.1668A>G
NR_135911.2:n.1788A>G
NR_135912.2:n.2347A>G
NR_135913.2:n.2034A>G