Canonical Allele Identifier: CA463218280

Gene: DNAAF11

Linked Data

• gnomAD v4: 8-132632751-G-T
• MyVariant Identifiers: chr8:g.133644997G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132632751G>T , CM000670.2:g.132632751G>T	GRCh38
NC_000008.10:g.133644997G>T , CM000670.1:g.133644997G>T	GRCh37
NC_000008.9:g.133714179G>T	NCBI36
NG_033068.1:g.47867C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.642C>A MANE Select	ENSP00000484634.1:p.Ile214=
ENST00000250173.5:c.642C>A	ENSP00000250173.2:p.Ile214=
ENST00000518642.5:c.642C>A	ENSP00000428610.1:p.Ile214=
ENST00000519595.5:c.642C>A	ENSP00000429791.1:p.Ile214=
ENST00000520446.5:n.528+5184C>A
ENST00000523503.1:n.415+5184C>A
ENST00000618342.1:c.642C>A	ENSP00000484802.1:p.Ile214=
ENST00000620350.4:c.642C>A	ENSP00000484634.1:p.Ile214=
NM_012472.4:c.642C>A	NP_036604.2:p.Ile214=
NR_073525.1:n.766C>A
XM_006716538.2:c.660C>A	XP_006716601.2:p.Ile220=
XM_011516950.1:c.660C>A	XP_011515252.1:p.Ile220=
XM_011516951.1:c.660C>A	XP_011515253.1:p.Ile220=
XM_011516952.1:c.396C>A	XP_011515254.1:p.Ile132=
XM_011516953.1:c.282C>A	XP_011515255.1:p.Ile94=
XM_011516954.1:c.282C>A	XP_011515256.1:p.Ile94=
XR_428377.2:n.785C>A
NM_001321961.1:c.642C>A	NP_001308890.1:p.Ile214=
NM_001321962.1:c.396C>A	NP_001308891.1:p.Ile132=
NM_001321963.1:c.282C>A	NP_001308892.1:p.Ile94=
NM_001321964.1:c.282C>A	NP_001308893.1:p.Ile94=
NM_001321965.1:c.282C>A	NP_001308894.1:p.Ile94=
NM_001321966.1:c.282C>A	NP_001308895.1:p.Ile94=
NM_012472.5:c.642C>A	NP_036604.2:p.Ile214=
NR_073525.2:n.766C>A
NR_135905.1:n.866+5184C>A
NR_135906.1:n.307+5184C>A
NR_135907.1:n.553+5184C>A
NR_135908.1:n.307+5184C>A
NR_135909.1:n.671+5184C>A
NR_135910.1:n.978+5184C>A
NR_135911.1:n.1057+5184C>A
NR_135912.1:n.1616+5184C>A
NR_135913.1:n.1303+5184C>A
XM_006716538.3:c.660C>A	XP_006716601.2:p.Ile220=
XM_011516950.2:c.660C>A	XP_011515252.1:p.Ile220=
XM_017013296.1:c.540C>A	XP_016868785.1:p.Ile180=
XM_017013297.1:c.282C>A	XP_016868786.1:p.Ile94=
XM_017013298.1:c.282C>A	XP_016868787.1:p.Ile94=
NM_012472.6:c.642C>A MANE Select	NP_036604.2:p.Ile214=
NM_001321961.2:c.642C>A	NP_001308890.1:p.Ile214=
NM_001321962.2:c.396C>A	NP_001308891.1:p.Ile132=
NM_001321963.2:c.282C>A	NP_001308892.1:p.Ile94=
NM_001321964.2:c.282C>A	NP_001308893.1:p.Ile94=
NM_001321965.2:c.282C>A	NP_001308894.1:p.Ile94=
NM_001321966.2:c.282C>A	NP_001308895.1:p.Ile94=
NR_073525.3:n.694C>A
NR_135905.2:n.794+5184C>A
NR_135906.2:n.235+5184C>A
NR_135907.2:n.481+5184C>A
NR_135908.2:n.235+5184C>A
NR_135909.2:n.691+5184C>A
NR_135910.2:n.1041+5184C>A
NR_135911.2:n.1161+5184C>A
NR_135912.2:n.1720+5184C>A
NR_135913.2:n.1407+5184C>A