Canonical Allele Identifier: CA372294935

Gene: DNAAF11

Linked Data

• gnomAD v4: 8-132632741-G-T
• MyVariant Identifiers: chr8:g.133644987G>T (hg19) ; chr8:g.132632741G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132632741G>T , CM000670.2:g.132632741G>T	GRCh38
NC_000008.10:g.133644987G>T , CM000670.1:g.133644987G>T	GRCh37
NC_000008.9:g.133714169G>T	NCBI36
NG_033068.1:g.47877C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000620350.5:c.652C>A MANE Select	ENSP00000484634.1:p.Leu218Ile
ENST00000250173.5:c.652C>A	ENSP00000250173.2:p.Leu218Ile
ENST00000518642.5:c.652C>A	ENSP00000428610.1:p.Leu218Ile
ENST00000519595.5:c.652C>A	ENSP00000429791.1:p.Leu218Ile
ENST00000520446.5:n.528+5194C>A
ENST00000523503.1:n.415+5194C>A
ENST00000618342.1:c.652C>A	ENSP00000484802.1:p.Leu218Ile
ENST00000620350.4:c.652C>A	ENSP00000484634.1:p.Leu218Ile
NM_012472.4:c.652C>A	NP_036604.2:p.Leu218Ile
NR_073525.1:n.776C>A
XM_006716538.2:c.670C>A	XP_006716601.2:p.Leu224Ile
XM_011516950.1:c.670C>A	XP_011515252.1:p.Leu224Ile
XM_011516951.1:c.670C>A	XP_011515253.1:p.Leu224Ile
XM_011516952.1:c.406C>A	XP_011515254.1:p.Leu136Ile
XM_011516953.1:c.292C>A	XP_011515255.1:p.Leu98Ile
XM_011516954.1:c.292C>A	XP_011515256.1:p.Leu98Ile
XR_428377.2:n.795C>A
NM_001321961.1:c.652C>A	NP_001308890.1:p.Leu218Ile
NM_001321962.1:c.406C>A	NP_001308891.1:p.Leu136Ile
NM_001321963.1:c.292C>A	NP_001308892.1:p.Leu98Ile
NM_001321964.1:c.292C>A	NP_001308893.1:p.Leu98Ile
NM_001321965.1:c.292C>A	NP_001308894.1:p.Leu98Ile
NM_001321966.1:c.292C>A	NP_001308895.1:p.Leu98Ile
NM_012472.5:c.652C>A	NP_036604.2:p.Leu218Ile
NR_073525.2:n.776C>A
NR_135905.1:n.866+5194C>A
NR_135906.1:n.307+5194C>A
NR_135907.1:n.553+5194C>A
NR_135908.1:n.307+5194C>A
NR_135909.1:n.671+5194C>A
NR_135910.1:n.978+5194C>A
NR_135911.1:n.1057+5194C>A
NR_135912.1:n.1616+5194C>A
NR_135913.1:n.1303+5194C>A
XM_006716538.3:c.670C>A	XP_006716601.2:p.Leu224Ile
XM_011516950.2:c.670C>A	XP_011515252.1:p.Leu224Ile
XM_017013296.1:c.550C>A	XP_016868785.1:p.Leu184Ile
XM_017013297.1:c.292C>A	XP_016868786.1:p.Leu98Ile
XM_017013298.1:c.292C>A	XP_016868787.1:p.Leu98Ile
NM_012472.6:c.652C>A MANE Select	NP_036604.2:p.Leu218Ile
NM_001321961.2:c.652C>A	NP_001308890.1:p.Leu218Ile
NM_001321962.2:c.406C>A	NP_001308891.1:p.Leu136Ile
NM_001321963.2:c.292C>A	NP_001308892.1:p.Leu98Ile
NM_001321964.2:c.292C>A	NP_001308893.1:p.Leu98Ile
NM_001321965.2:c.292C>A	NP_001308894.1:p.Leu98Ile
NM_001321966.2:c.292C>A	NP_001308895.1:p.Leu98Ile
NR_073525.3:n.704C>A
NR_135905.2:n.794+5194C>A
NR_135906.2:n.235+5194C>A
NR_135907.2:n.481+5194C>A
NR_135908.2:n.235+5194C>A
NR_135909.2:n.691+5194C>A
NR_135910.2:n.1041+5194C>A
NR_135911.2:n.1161+5194C>A
NR_135912.2:n.1720+5194C>A
NR_135913.2:n.1407+5194C>A