Canonical Allele Identifier: CA372291757

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584594G>T (hg19) ; chr8:g.132572346G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572346G>T , CM000670.2:g.132572346G>T	GRCh38
NC_000008.10:g.133584594G>T , CM000670.1:g.133584594G>T	GRCh37
NC_000008.9:g.133653776G>T	NCBI36
NG_033068.1:g.108270C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1361C>A MANE Select	ENSP00000484634.1:p.Pro454Gln
ENST00000250173.5:c.*225C>A	ENSP00000250173.2:n.*225C>A
ENST00000518642.5:c.*225C>A	ENSP00000428610.1:n.*225C>A
ENST00000519595.5:c.1361C>A	ENSP00000429791.1:p.Pro454Gln
ENST00000522789.5:c.581C>A	ENSP00000428015.1:p.Pro194Gln
ENST00000618342.1:c.1361C>A	ENSP00000484802.1:p.Pro454Gln
ENST00000620350.4:c.1361C>A	ENSP00000484634.1:p.Pro454Gln
NM_012472.4:c.1361C>A	NP_036604.2:p.Pro454Gln
NR_073525.1:n.1585C>A
XM_006716538.2:c.1379C>A	XP_006716601.2:p.Pro460Gln
XM_011516950.1:c.1319C>A	XP_011515252.1:p.Pro440Gln
XM_011516952.1:c.1115C>A	XP_011515254.1:p.Pro372Gln
XM_011516953.1:c.1001C>A	XP_011515255.1:p.Pro334Gln
XM_011516954.1:c.1001C>A	XP_011515256.1:p.Pro334Gln
XR_428377.2:n.1613C>A
NM_001321961.1:c.1301C>A	NP_001308890.1:p.Pro434Gln
NM_001321962.1:c.1115C>A	NP_001308891.1:p.Pro372Gln
NM_001321963.1:c.1001C>A	NP_001308892.1:p.Pro334Gln
NM_001321964.1:c.1001C>A	NP_001308893.1:p.Pro334Gln
NM_001321965.1:c.1001C>A	NP_001308894.1:p.Pro334Gln
NM_001321966.1:c.941C>A	NP_001308895.1:p.Pro314Gln
NM_012472.5:c.1361C>A	NP_036604.2:p.Pro454Gln
NR_073525.2:n.1585C>A
NR_135905.1:n.1574C>A
NR_135906.1:n.1015C>A
NR_135907.1:n.1261C>A
NR_135908.1:n.955C>A
NR_135909.1:n.1379C>A
NR_135910.1:n.1686C>A
NR_135911.1:n.1765C>A
NR_135912.1:n.2324C>A
NR_135913.1:n.2011C>A
XM_006716538.3:c.1379C>A	XP_006716601.2:p.Pro460Gln
XM_011516950.2:c.1319C>A	XP_011515252.1:p.Pro440Gln
XM_017013296.1:c.1259C>A	XP_016868785.1:p.Pro420Gln
XM_017013297.1:c.1001C>A	XP_016868786.1:p.Pro334Gln
XM_017013298.1:c.1001C>A	XP_016868787.1:p.Pro334Gln
NM_012472.6:c.1361C>A MANE Select	NP_036604.2:p.Pro454Gln
NM_001321961.2:c.1301C>A	NP_001308890.1:p.Pro434Gln
NM_001321962.2:c.1115C>A	NP_001308891.1:p.Pro372Gln
NM_001321963.2:c.1001C>A	NP_001308892.1:p.Pro334Gln
NM_001321964.2:c.1001C>A	NP_001308893.1:p.Pro334Gln
NM_001321965.2:c.1001C>A	NP_001308894.1:p.Pro334Gln
NM_001321966.2:c.941C>A	NP_001308895.1:p.Pro314Gln
NR_073525.3:n.1513C>A
NR_135905.2:n.1502C>A
NR_135906.2:n.943C>A
NR_135907.2:n.1189C>A
NR_135908.2:n.883C>A
NR_135909.2:n.1399C>A
NR_135910.2:n.1749C>A
NR_135911.2:n.1869C>A
NR_135912.2:n.2428C>A
NR_135913.2:n.2115C>A