Canonical Allele Identifier: CA186268551

Gene: DNAAF11

Linked Data

• dbSNP Id: rs945275775
• gnomAD v2: 8-133584483-T-A
• gnomAD v3: 8-132572235-T-A
• gnomAD v4: 8-132572235-T-A
• MyVariant Identifiers: chr8:g.133584483T>A (hg19) ; chr8:g.132572235T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572235T>A , CM000670.2:g.132572235T>A	GRCh38
NC_000008.10:g.133584483T>A , CM000670.1:g.133584483T>A	GRCh37
NC_000008.9:g.133653665T>A	NCBI36
NG_033068.1:g.108381A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.*71A>T MANE Select	ENSP00000484634.1:n.*71A>T
ENST00000250173.5:c.*336A>T	ENSP00000250173.2:n.*336A>T
ENST00000518642.5:c.*336A>T	ENSP00000428610.1:n.*336A>T
ENST00000519595.5:c.*71A>T	ENSP00000429791.1:n.*71A>T
ENST00000522789.5:c.692A>T	ENSP00000428015.1:n.692A>T
ENST00000618342.1:c.1472A>T	ENSP00000484802.1:n.1472A>T
ENST00000620350.4:c.*71A>T	ENSP00000484634.1:n.*71A>T
NM_012472.4:c.*71A>T	NP_036604.2:n.*71A>T
NR_073525.1:n.1696A>T
XM_006716538.2:c.*71A>T	XP_006716601.2:n.*71A>T
XM_011516950.1:c.*71A>T	XP_011515252.1:n.*71A>T
XM_011516952.1:c.*71A>T	XP_011515254.1:n.*71A>T
XM_011516953.1:c.*71A>T	XP_011515255.1:n.*71A>T
XM_011516954.1:c.*71A>T	XP_011515256.1:n.*71A>T
XR_428377.2:n.1724A>T
NM_001321961.1:c.*71A>T	NP_001308890.1:n.*71A>T
NM_001321962.1:c.*71A>T	NP_001308891.1:n.*71A>T
NM_001321963.1:c.*71A>T	NP_001308892.1:n.*71A>T
NM_001321964.1:c.*71A>T	NP_001308893.1:n.*71A>T
NM_001321965.1:c.*71A>T	NP_001308894.1:n.*71A>T
NM_001321966.1:c.*71A>T	NP_001308895.1:n.*71A>T
NM_012472.5:c.*71A>T	NP_036604.2:n.*71A>T
NR_073525.2:n.1696A>T
NR_135905.1:n.1685A>T
NR_135906.1:n.1126A>T
NR_135907.1:n.1372A>T
NR_135908.1:n.1066A>T
NR_135909.1:n.1490A>T
NR_135910.1:n.1797A>T
NR_135911.1:n.1876A>T
NR_135912.1:n.2435A>T
NR_135913.1:n.2122A>T
XM_006716538.3:c.*71A>T	XP_006716601.2:n.*71A>T
XM_011516950.2:c.*71A>T	XP_011515252.1:n.*71A>T
XM_017013296.1:c.*71A>T	XP_016868785.1:n.*71A>T
XM_017013297.1:c.*71A>T	XP_016868786.1:n.*71A>T
XM_017013298.1:c.*71A>T	XP_016868787.1:n.*71A>T
NM_012472.6:c.*71A>T MANE Select	NP_036604.2:n.*71A>T
NM_001321961.2:c.*71A>T	NP_001308890.1:n.*71A>T
NM_001321962.2:c.*71A>T	NP_001308891.1:n.*71A>T
NM_001321963.2:c.*71A>T	NP_001308892.1:n.*71A>T
NM_001321964.2:c.*71A>T	NP_001308893.1:n.*71A>T
NM_001321965.2:c.*71A>T	NP_001308894.1:n.*71A>T
NM_001321966.2:c.*71A>T	NP_001308895.1:n.*71A>T
NR_073525.3:n.1624A>T
NR_135905.2:n.1613A>T
NR_135906.2:n.1054A>T
NR_135907.2:n.1300A>T
NR_135908.2:n.994A>T
NR_135909.2:n.1510A>T
NR_135910.2:n.1860A>T
NR_135911.2:n.1980A>T
NR_135912.2:n.2539A>T
NR_135913.2:n.2226A>T