Canonical Allele Identifier: CA2688633321

Gene: DNAAF11

Linked Data

• gnomAD v4: 8-132656783-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132656783A>C , CM000670.2:g.132656783A>C	GRCh38
NC_000008.10:g.133669029A>C , CM000670.1:g.133669029A>C	GRCh37
NC_000008.9:g.133738211A>C	NCBI36
NG_033068.1:g.23835T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.256+47T>G MANE Select	ENSP00000484634.1:n.256+47T>G
ENST00000250173.5:c.256+47T>G	ENSP00000250173.2:n.256+47T>G
ENST00000518101.1:n.343+47T>G
ENST00000518642.5:c.256+47T>G	ENSP00000428610.1:n.256+47T>G
ENST00000519595.5:c.256+47T>G	ENSP00000429791.1:n.256+47T>G
ENST00000520446.5:n.355+47T>G
ENST00000521430.5:n.498+47T>G
ENST00000522584.5:c.256+47T>G	ENSP00000429811.1:n.256+47T>G
ENST00000523503.1:n.242+18535T>G
ENST00000618342.1:c.256+47T>G	ENSP00000484802.1:n.256+47T>G
ENST00000620350.4:c.256+47T>G	ENSP00000484634.1:n.256+47T>G
NM_012472.4:c.256+47T>G	NP_036604.2:n.256+47T>G
NR_073525.1:n.380+47T>G
XM_006716538.2:c.274+47T>G	XP_006716601.2:n.274+47T>G
XM_011516950.1:c.274+47T>G	XP_011515252.1:n.274+47T>G
XM_011516951.1:c.274+47T>G	XP_011515253.1:n.274+47T>G
XM_011516952.1:c.11-18676T>G	XP_011515254.1:n.11-18676T>G
XM_011516953.1:c.-105+47T>G	XP_011515255.1:n.-105+47T>G
XM_011516954.1:c.-168+47T>G	XP_011515256.1:n.-168+47T>G
XR_428377.2:n.399+47T>G
NM_001321961.1:c.256+47T>G	NP_001308890.1:n.256+47T>G
NM_001321962.1:c.11-18676T>G	NP_001308891.1:n.11-18676T>G
NM_001321963.1:c.-105+47T>G	NP_001308892.1:n.-105+47T>G
NM_001321964.1:c.-105+47T>G	NP_001308893.1:n.-105+47T>G
NM_001321965.1:c.-418+47T>G	NP_001308894.1:n.-418+47T>G
NM_001321966.1:c.-105+47T>G	NP_001308895.1:n.-105+47T>G
NM_012472.5:c.256+47T>G	NP_036604.2:n.256+47T>G
NR_073525.2:n.380+47T>G
NR_135905.1:n.380+47T>G
NR_135906.1:n.135-18676T>G
NR_135907.1:n.380+47T>G
NR_135908.1:n.135-18676T>G
NR_135909.1:n.498+47T>G
NR_135910.1:n.805+47T>G
NR_135911.1:n.884+17775T>G
NR_135912.1:n.1130+47T>G
NR_135913.1:n.1130+47T>G
XM_006716538.3:c.274+47T>G	XP_006716601.2:n.274+47T>G
XM_011516950.2:c.274+47T>G	XP_011515252.1:n.274+47T>G
XM_017013296.1:c.154+47T>G	XP_016868785.1:n.154+47T>G
XM_017013297.1:c.-105+47T>G	XP_016868786.1:n.-105+47T>G
XM_017013298.1:c.-209+47T>G	XP_016868787.1:n.-209+47T>G
NM_012472.6:c.256+47T>G MANE Select	NP_036604.2:n.256+47T>G
NM_001321961.2:c.256+47T>G	NP_001308890.1:n.256+47T>G
NM_001321962.2:c.11-18676T>G	NP_001308891.1:n.11-18676T>G
NM_001321963.2:c.-105+47T>G	NP_001308892.1:n.-105+47T>G
NM_001321964.2:c.-105+47T>G	NP_001308893.1:n.-105+47T>G
NM_001321965.2:c.-418+47T>G	NP_001308894.1:n.-418+47T>G
NM_001321966.2:c.-105+47T>G	NP_001308895.1:n.-105+47T>G
NR_073525.3:n.308+47T>G
NR_135905.2:n.308+47T>G
NR_135906.2:n.63-18676T>G
NR_135907.2:n.308+47T>G
NR_135908.2:n.63-18676T>G
NR_135909.2:n.518+47T>G
NR_135910.2:n.868+47T>G
NR_135911.2:n.988+17775T>G
NR_135912.2:n.1234+47T>G
NR_135913.2:n.1234+47T>G