Canonical Allele Identifier: CA2688630987

Gene: DNAAF11

Linked Data

• gnomAD v4: 8-132572267-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572267C>A , CM000670.2:g.132572267C>A	GRCh38
NC_000008.10:g.133584515C>A , CM000670.1:g.133584515C>A	GRCh37
NC_000008.9:g.133653697C>A	NCBI36
NG_033068.1:g.108349G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.*39G>T MANE Select	ENSP00000484634.1:n.*39G>T
ENST00000250173.5:c.*304G>T	ENSP00000250173.2:n.*304G>T
ENST00000518642.5:c.*304G>T	ENSP00000428610.1:n.*304G>T
ENST00000519595.5:c.*39G>T	ENSP00000429791.1:n.*39G>T
ENST00000522789.5:c.660G>T	ENSP00000428015.1:n.660G>T
ENST00000618342.1:c.1440G>T	ENSP00000484802.1:n.1440G>T
ENST00000620350.4:c.*39G>T	ENSP00000484634.1:n.*39G>T
NM_012472.4:c.*39G>T	NP_036604.2:n.*39G>T
NR_073525.1:n.1664G>T
XM_006716538.2:c.*39G>T	XP_006716601.2:n.*39G>T
XM_011516950.1:c.*39G>T	XP_011515252.1:n.*39G>T
XM_011516952.1:c.*39G>T	XP_011515254.1:n.*39G>T
XM_011516953.1:c.*39G>T	XP_011515255.1:n.*39G>T
XM_011516954.1:c.*39G>T	XP_011515256.1:n.*39G>T
XR_428377.2:n.1692G>T
NM_001321961.1:c.*39G>T	NP_001308890.1:n.*39G>T
NM_001321962.1:c.*39G>T	NP_001308891.1:n.*39G>T
NM_001321963.1:c.*39G>T	NP_001308892.1:n.*39G>T
NM_001321964.1:c.*39G>T	NP_001308893.1:n.*39G>T
NM_001321965.1:c.*39G>T	NP_001308894.1:n.*39G>T
NM_001321966.1:c.*39G>T	NP_001308895.1:n.*39G>T
NM_012472.5:c.*39G>T	NP_036604.2:n.*39G>T
NR_073525.2:n.1664G>T
NR_135905.1:n.1653G>T
NR_135906.1:n.1094G>T
NR_135907.1:n.1340G>T
NR_135908.1:n.1034G>T
NR_135909.1:n.1458G>T
NR_135910.1:n.1765G>T
NR_135911.1:n.1844G>T
NR_135912.1:n.2403G>T
NR_135913.1:n.2090G>T
XM_006716538.3:c.*39G>T	XP_006716601.2:n.*39G>T
XM_011516950.2:c.*39G>T	XP_011515252.1:n.*39G>T
XM_017013296.1:c.*39G>T	XP_016868785.1:n.*39G>T
XM_017013297.1:c.*39G>T	XP_016868786.1:n.*39G>T
XM_017013298.1:c.*39G>T	XP_016868787.1:n.*39G>T
NM_012472.6:c.*39G>T MANE Select	NP_036604.2:n.*39G>T
NM_001321961.2:c.*39G>T	NP_001308890.1:n.*39G>T
NM_001321962.2:c.*39G>T	NP_001308891.1:n.*39G>T
NM_001321963.2:c.*39G>T	NP_001308892.1:n.*39G>T
NM_001321964.2:c.*39G>T	NP_001308893.1:n.*39G>T
NM_001321965.2:c.*39G>T	NP_001308894.1:n.*39G>T
NM_001321966.2:c.*39G>T	NP_001308895.1:n.*39G>T
NR_073525.3:n.1592G>T
NR_135905.2:n.1581G>T
NR_135906.2:n.1022G>T
NR_135907.2:n.1268G>T
NR_135908.2:n.962G>T
NR_135909.2:n.1478G>T
NR_135910.2:n.1828G>T
NR_135911.2:n.1948G>T
NR_135912.2:n.2507G>T
NR_135913.2:n.2194G>T