Canonical Allele Identifier: CA372292001

Gene: DNAAF11

Linked Data

• dbSNP Id: rs1814304605
• MyVariant Identifiers: chr8:g.133584706C>G (hg19) ; chr8:g.132572458C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572458C>G , CM000670.2:g.132572458C>G	GRCh38
NC_000008.10:g.133584706C>G , CM000670.1:g.133584706C>G	GRCh37
NC_000008.9:g.133653888C>G	NCBI36
NG_033068.1:g.108158G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1249G>C MANE Select	ENSP00000484634.1:p.Glu417Gln
ENST00000250173.5:c.*113G>C	ENSP00000250173.2:n.*113G>C
ENST00000518642.5:c.*113G>C	ENSP00000428610.1:n.*113G>C
ENST00000519595.5:c.1249G>C	ENSP00000429791.1:p.Glu417Gln
ENST00000522597.1:n.518G>C
ENST00000522789.5:c.469G>C	ENSP00000428015.1:p.Glu157Gln
ENST00000618342.1:c.1249G>C	ENSP00000484802.1:p.Glu417Gln
ENST00000620350.4:c.1249G>C	ENSP00000484634.1:p.Glu417Gln
NM_012472.4:c.1249G>C	NP_036604.2:p.Glu417Gln
NR_073525.1:n.1473G>C
XM_006716538.2:c.1267G>C	XP_006716601.2:p.Glu423Gln
XM_011516950.1:c.1207G>C	XP_011515252.1:p.Glu403Gln
XM_011516952.1:c.1003G>C	XP_011515254.1:p.Glu335Gln
XM_011516953.1:c.889G>C	XP_011515255.1:p.Glu297Gln
XM_011516954.1:c.889G>C	XP_011515256.1:p.Glu297Gln
XR_428377.2:n.1501G>C
NM_001321961.1:c.1189G>C	NP_001308890.1:p.Glu397Gln
NM_001321962.1:c.1003G>C	NP_001308891.1:p.Glu335Gln
NM_001321963.1:c.889G>C	NP_001308892.1:p.Glu297Gln
NM_001321964.1:c.889G>C	NP_001308893.1:p.Glu297Gln
NM_001321965.1:c.889G>C	NP_001308894.1:p.Glu297Gln
NM_001321966.1:c.829G>C	NP_001308895.1:p.Glu277Gln
NM_012472.5:c.1249G>C	NP_036604.2:p.Glu417Gln
NR_073525.2:n.1473G>C
NR_135905.1:n.1462G>C
NR_135906.1:n.903G>C
NR_135907.1:n.1149G>C
NR_135908.1:n.843G>C
NR_135909.1:n.1267G>C
NR_135910.1:n.1574G>C
NR_135911.1:n.1653G>C
NR_135912.1:n.2212G>C
NR_135913.1:n.1899G>C
XM_006716538.3:c.1267G>C	XP_006716601.2:p.Glu423Gln
XM_011516950.2:c.1207G>C	XP_011515252.1:p.Glu403Gln
XM_017013296.1:c.1147G>C	XP_016868785.1:p.Glu383Gln
XM_017013297.1:c.889G>C	XP_016868786.1:p.Glu297Gln
XM_017013298.1:c.889G>C	XP_016868787.1:p.Glu297Gln
NM_012472.6:c.1249G>C MANE Select	NP_036604.2:p.Glu417Gln
NM_001321961.2:c.1189G>C	NP_001308890.1:p.Glu397Gln
NM_001321962.2:c.1003G>C	NP_001308891.1:p.Glu335Gln
NM_001321963.2:c.889G>C	NP_001308892.1:p.Glu297Gln
NM_001321964.2:c.889G>C	NP_001308893.1:p.Glu297Gln
NM_001321965.2:c.889G>C	NP_001308894.1:p.Glu297Gln
NM_001321966.2:c.829G>C	NP_001308895.1:p.Glu277Gln
NR_073525.3:n.1401G>C
NR_135905.2:n.1390G>C
NR_135906.2:n.831G>C
NR_135907.2:n.1077G>C
NR_135908.2:n.771G>C
NR_135909.2:n.1287G>C
NR_135910.2:n.1637G>C
NR_135911.2:n.1757G>C
NR_135912.2:n.2316G>C
NR_135913.2:n.2003G>C