Canonical Allele Identifier: CA372291952

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584685A>C (hg19) ; chr8:g.132572437A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572437A>C , CM000670.2:g.132572437A>C	GRCh38
NC_000008.10:g.133584685A>C , CM000670.1:g.133584685A>C	GRCh37
NC_000008.9:g.133653867A>C	NCBI36
NG_033068.1:g.108179T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1270T>G MANE Select	ENSP00000484634.1:p.Ser424Ala
ENST00000250173.5:c.*134T>G	ENSP00000250173.2:n.*134T>G
ENST00000518642.5:c.*134T>G	ENSP00000428610.1:n.*134T>G
ENST00000519595.5:c.1270T>G	ENSP00000429791.1:p.Ser424Ala
ENST00000522597.1:n.539T>G
ENST00000522789.5:c.490T>G	ENSP00000428015.1:p.Ser164Ala
ENST00000618342.1:c.1270T>G	ENSP00000484802.1:p.Ser424Ala
ENST00000620350.4:c.1270T>G	ENSP00000484634.1:p.Ser424Ala
NM_012472.4:c.1270T>G	NP_036604.2:p.Ser424Ala
NR_073525.1:n.1494T>G
XM_006716538.2:c.1288T>G	XP_006716601.2:p.Ser430Ala
XM_011516950.1:c.1228T>G	XP_011515252.1:p.Ser410Ala
XM_011516952.1:c.1024T>G	XP_011515254.1:p.Ser342Ala
XM_011516953.1:c.910T>G	XP_011515255.1:p.Ser304Ala
XM_011516954.1:c.910T>G	XP_011515256.1:p.Ser304Ala
XR_428377.2:n.1522T>G
NM_001321961.1:c.1210T>G	NP_001308890.1:p.Ser404Ala
NM_001321962.1:c.1024T>G	NP_001308891.1:p.Ser342Ala
NM_001321963.1:c.910T>G	NP_001308892.1:p.Ser304Ala
NM_001321964.1:c.910T>G	NP_001308893.1:p.Ser304Ala
NM_001321965.1:c.910T>G	NP_001308894.1:p.Ser304Ala
NM_001321966.1:c.850T>G	NP_001308895.1:p.Ser284Ala
NM_012472.5:c.1270T>G	NP_036604.2:p.Ser424Ala
NR_073525.2:n.1494T>G
NR_135905.1:n.1483T>G
NR_135906.1:n.924T>G
NR_135907.1:n.1170T>G
NR_135908.1:n.864T>G
NR_135909.1:n.1288T>G
NR_135910.1:n.1595T>G
NR_135911.1:n.1674T>G
NR_135912.1:n.2233T>G
NR_135913.1:n.1920T>G
XM_006716538.3:c.1288T>G	XP_006716601.2:p.Ser430Ala
XM_011516950.2:c.1228T>G	XP_011515252.1:p.Ser410Ala
XM_017013296.1:c.1168T>G	XP_016868785.1:p.Ser390Ala
XM_017013297.1:c.910T>G	XP_016868786.1:p.Ser304Ala
XM_017013298.1:c.910T>G	XP_016868787.1:p.Ser304Ala
NM_012472.6:c.1270T>G MANE Select	NP_036604.2:p.Ser424Ala
NM_001321961.2:c.1210T>G	NP_001308890.1:p.Ser404Ala
NM_001321962.2:c.1024T>G	NP_001308891.1:p.Ser342Ala
NM_001321963.2:c.910T>G	NP_001308892.1:p.Ser304Ala
NM_001321964.2:c.910T>G	NP_001308893.1:p.Ser304Ala
NM_001321965.2:c.910T>G	NP_001308894.1:p.Ser304Ala
NM_001321966.2:c.850T>G	NP_001308895.1:p.Ser284Ala
NR_073525.3:n.1422T>G
NR_135905.2:n.1411T>G
NR_135906.2:n.852T>G
NR_135907.2:n.1098T>G
NR_135908.2:n.792T>G
NR_135909.2:n.1308T>G
NR_135910.2:n.1658T>G
NR_135911.2:n.1778T>G
NR_135912.2:n.2337T>G
NR_135913.2:n.2024T>G