Canonical Allele Identifier: CA372291694

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584567G>C (hg19) ; chr8:g.132572319G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572319G>C , CM000670.2:g.132572319G>C	GRCh38
NC_000008.10:g.133584567G>C , CM000670.1:g.133584567G>C	GRCh37
NC_000008.9:g.133653749G>C	NCBI36
NG_033068.1:g.108297C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1388C>G MANE Select	ENSP00000484634.1:p.Pro463Arg
ENST00000250173.5:c.*252C>G	ENSP00000250173.2:n.*252C>G
ENST00000518642.5:c.*252C>G	ENSP00000428610.1:n.*252C>G
ENST00000519595.5:c.1388C>G	ENSP00000429791.1:p.Pro463Arg
ENST00000522789.5:c.608C>G	ENSP00000428015.1:p.Pro203Arg
ENST00000618342.1:c.1388C>G	ENSP00000484802.1:p.Pro463Arg
ENST00000620350.4:c.1388C>G	ENSP00000484634.1:p.Pro463Arg
NM_012472.4:c.1388C>G	NP_036604.2:p.Pro463Arg
NR_073525.1:n.1612C>G
XM_006716538.2:c.1406C>G	XP_006716601.2:p.Pro469Arg
XM_011516950.1:c.1346C>G	XP_011515252.1:p.Pro449Arg
XM_011516952.1:c.1142C>G	XP_011515254.1:p.Pro381Arg
XM_011516953.1:c.1028C>G	XP_011515255.1:p.Pro343Arg
XM_011516954.1:c.1028C>G	XP_011515256.1:p.Pro343Arg
XR_428377.2:n.1640C>G
NM_001321961.1:c.1328C>G	NP_001308890.1:p.Pro443Arg
NM_001321962.1:c.1142C>G	NP_001308891.1:p.Pro381Arg
NM_001321963.1:c.1028C>G	NP_001308892.1:p.Pro343Arg
NM_001321964.1:c.1028C>G	NP_001308893.1:p.Pro343Arg
NM_001321965.1:c.1028C>G	NP_001308894.1:p.Pro343Arg
NM_001321966.1:c.968C>G	NP_001308895.1:p.Pro323Arg
NM_012472.5:c.1388C>G	NP_036604.2:p.Pro463Arg
NR_073525.2:n.1612C>G
NR_135905.1:n.1601C>G
NR_135906.1:n.1042C>G
NR_135907.1:n.1288C>G
NR_135908.1:n.982C>G
NR_135909.1:n.1406C>G
NR_135910.1:n.1713C>G
NR_135911.1:n.1792C>G
NR_135912.1:n.2351C>G
NR_135913.1:n.2038C>G
XM_006716538.3:c.1406C>G	XP_006716601.2:p.Pro469Arg
XM_011516950.2:c.1346C>G	XP_011515252.1:p.Pro449Arg
XM_017013296.1:c.1286C>G	XP_016868785.1:p.Pro429Arg
XM_017013297.1:c.1028C>G	XP_016868786.1:p.Pro343Arg
XM_017013298.1:c.1028C>G	XP_016868787.1:p.Pro343Arg
NM_012472.6:c.1388C>G MANE Select	NP_036604.2:p.Pro463Arg
NM_001321961.2:c.1328C>G	NP_001308890.1:p.Pro443Arg
NM_001321962.2:c.1142C>G	NP_001308891.1:p.Pro381Arg
NM_001321963.2:c.1028C>G	NP_001308892.1:p.Pro343Arg
NM_001321964.2:c.1028C>G	NP_001308893.1:p.Pro343Arg
NM_001321965.2:c.1028C>G	NP_001308894.1:p.Pro343Arg
NM_001321966.2:c.968C>G	NP_001308895.1:p.Pro323Arg
NR_073525.3:n.1540C>G
NR_135905.2:n.1529C>G
NR_135906.2:n.970C>G
NR_135907.2:n.1216C>G
NR_135908.2:n.910C>G
NR_135909.2:n.1426C>G
NR_135910.2:n.1776C>G
NR_135911.2:n.1896C>G
NR_135912.2:n.2455C>G
NR_135913.2:n.2142C>G