Canonical Allele Identifier: CA2688630913

Gene: DNAAF11

Linked Data

• gnomAD v4: 8-132572129-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572129C>A , CM000670.2:g.132572129C>A	GRCh38
NC_000008.10:g.133584377C>A , CM000670.1:g.133584377C>A	GRCh37
NC_000008.9:g.133653559C>A	NCBI36
NG_033068.1:g.108487G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.*177G>T MANE Select	ENSP00000484634.1:n.*177G>T
ENST00000519595.5:c.*177G>T	ENSP00000429791.1:n.*177G>T
ENST00000618342.1:c.1578G>T	ENSP00000484802.1:n.1578G>T
ENST00000620350.4:c.*177G>T	ENSP00000484634.1:n.*177G>T
NM_012472.4:c.*177G>T	NP_036604.2:n.*177G>T
NR_073525.1:n.1802G>T
XM_006716538.2:c.*177G>T	XP_006716601.2:n.*177G>T
XM_011516950.1:c.*177G>T	XP_011515252.1:n.*177G>T
XM_011516952.1:c.*177G>T	XP_011515254.1:n.*177G>T
XM_011516953.1:c.*177G>T	XP_011515255.1:n.*177G>T
XM_011516954.1:c.*177G>T	XP_011515256.1:n.*177G>T
XR_428377.2:n.1830G>T
NM_001321961.1:c.*177G>T	NP_001308890.1:n.*177G>T
NM_001321962.1:c.*177G>T	NP_001308891.1:n.*177G>T
NM_001321963.1:c.*177G>T	NP_001308892.1:n.*177G>T
NM_001321964.1:c.*177G>T	NP_001308893.1:n.*177G>T
NM_001321965.1:c.*177G>T	NP_001308894.1:n.*177G>T
NM_001321966.1:c.*177G>T	NP_001308895.1:n.*177G>T
NM_012472.5:c.*177G>T	NP_036604.2:n.*177G>T
NR_073525.2:n.1802G>T
NR_135905.1:n.1791G>T
NR_135906.1:n.1232G>T
NR_135907.1:n.1478G>T
NR_135908.1:n.1172G>T
NR_135909.1:n.1596G>T
NR_135910.1:n.1903G>T
NR_135911.1:n.1982G>T
NR_135912.1:n.2541G>T
NR_135913.1:n.2228G>T
XM_006716538.3:c.*177G>T	XP_006716601.2:n.*177G>T
XM_011516950.2:c.*177G>T	XP_011515252.1:n.*177G>T
XM_017013296.1:c.*177G>T	XP_016868785.1:n.*177G>T
XM_017013297.1:c.*177G>T	XP_016868786.1:n.*177G>T
XM_017013298.1:c.*177G>T	XP_016868787.1:n.*177G>T
NM_012472.6:c.*177G>T MANE Select	NP_036604.2:n.*177G>T
NM_001321961.2:c.*177G>T	NP_001308890.1:n.*177G>T
NM_001321962.2:c.*177G>T	NP_001308891.1:n.*177G>T
NM_001321963.2:c.*177G>T	NP_001308892.1:n.*177G>T
NM_001321964.2:c.*177G>T	NP_001308893.1:n.*177G>T
NM_001321965.2:c.*177G>T	NP_001308894.1:n.*177G>T
NM_001321966.2:c.*177G>T	NP_001308895.1:n.*177G>T
NR_073525.3:n.1730G>T
NR_135905.2:n.1719G>T
NR_135906.2:n.1160G>T
NR_135907.2:n.1406G>T
NR_135908.2:n.1100G>T
NR_135909.2:n.1616G>T
NR_135910.2:n.1966G>T
NR_135911.2:n.2086G>T
NR_135912.2:n.2645G>T
NR_135913.2:n.2332G>T