Canonical Allele Identifier: CA372291681

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584559T>C (hg19) ; chr8:g.132572311T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572311T>C , CM000670.2:g.132572311T>C	GRCh38
NC_000008.10:g.133584559T>C , CM000670.1:g.133584559T>C	GRCh37
NC_000008.9:g.133653741T>C	NCBI36
NG_033068.1:g.108305A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1396A>G MANE Select	ENSP00000484634.1:p.Ile466Val
ENST00000250173.5:c.*260A>G	ENSP00000250173.2:n.*260A>G
ENST00000518642.5:c.*260A>G	ENSP00000428610.1:n.*260A>G
ENST00000519595.5:c.1396A>G	ENSP00000429791.1:p.Ile466Val
ENST00000522789.5:c.616A>G	ENSP00000428015.1:p.Ile206Val
ENST00000618342.1:c.1396A>G	ENSP00000484802.1:p.Ile466Val
ENST00000620350.4:c.1396A>G	ENSP00000484634.1:p.Ile466Val
NM_012472.4:c.1396A>G	NP_036604.2:p.Ile466Val
NR_073525.1:n.1620A>G
XM_006716538.2:c.1414A>G	XP_006716601.2:p.Ile472Val
XM_011516950.1:c.1354A>G	XP_011515252.1:p.Ile452Val
XM_011516952.1:c.1150A>G	XP_011515254.1:p.Ile384Val
XM_011516953.1:c.1036A>G	XP_011515255.1:p.Ile346Val
XM_011516954.1:c.1036A>G	XP_011515256.1:p.Ile346Val
XR_428377.2:n.1648A>G
NM_001321961.1:c.1336A>G	NP_001308890.1:p.Ile446Val
NM_001321962.1:c.1150A>G	NP_001308891.1:p.Ile384Val
NM_001321963.1:c.1036A>G	NP_001308892.1:p.Ile346Val
NM_001321964.1:c.1036A>G	NP_001308893.1:p.Ile346Val
NM_001321965.1:c.1036A>G	NP_001308894.1:p.Ile346Val
NM_001321966.1:c.976A>G	NP_001308895.1:p.Ile326Val
NM_012472.5:c.1396A>G	NP_036604.2:p.Ile466Val
NR_073525.2:n.1620A>G
NR_135905.1:n.1609A>G
NR_135906.1:n.1050A>G
NR_135907.1:n.1296A>G
NR_135908.1:n.990A>G
NR_135909.1:n.1414A>G
NR_135910.1:n.1721A>G
NR_135911.1:n.1800A>G
NR_135912.1:n.2359A>G
NR_135913.1:n.2046A>G
XM_006716538.3:c.1414A>G	XP_006716601.2:p.Ile472Val
XM_011516950.2:c.1354A>G	XP_011515252.1:p.Ile452Val
XM_017013296.1:c.1294A>G	XP_016868785.1:p.Ile432Val
XM_017013297.1:c.1036A>G	XP_016868786.1:p.Ile346Val
XM_017013298.1:c.1036A>G	XP_016868787.1:p.Ile346Val
NM_012472.6:c.1396A>G MANE Select	NP_036604.2:p.Ile466Val
NM_001321961.2:c.1336A>G	NP_001308890.1:p.Ile446Val
NM_001321962.2:c.1150A>G	NP_001308891.1:p.Ile384Val
NM_001321963.2:c.1036A>G	NP_001308892.1:p.Ile346Val
NM_001321964.2:c.1036A>G	NP_001308893.1:p.Ile346Val
NM_001321965.2:c.1036A>G	NP_001308894.1:p.Ile346Val
NM_001321966.2:c.976A>G	NP_001308895.1:p.Ile326Val
NR_073525.3:n.1548A>G
NR_135905.2:n.1537A>G
NR_135906.2:n.978A>G
NR_135907.2:n.1224A>G
NR_135908.2:n.918A>G
NR_135909.2:n.1434A>G
NR_135910.2:n.1784A>G
NR_135911.2:n.1904A>G
NR_135912.2:n.2463A>G
NR_135913.2:n.2150A>G