Canonical Allele Identifier: CA372291785

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584606C>A (hg19) ; chr8:g.132572358C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572358C>A , CM000670.2:g.132572358C>A	GRCh38
NC_000008.10:g.133584606C>A , CM000670.1:g.133584606C>A	GRCh37
NC_000008.9:g.133653788C>A	NCBI36
NG_033068.1:g.108258G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1349G>T MANE Select	ENSP00000484634.1:p.Ser450Ile
ENST00000250173.5:c.*213G>T	ENSP00000250173.2:n.*213G>T
ENST00000518642.5:c.*213G>T	ENSP00000428610.1:n.*213G>T
ENST00000519595.5:c.1349G>T	ENSP00000429791.1:p.Ser450Ile
ENST00000522789.5:c.569G>T	ENSP00000428015.1:p.Ser190Ile
ENST00000618342.1:c.1349G>T	ENSP00000484802.1:p.Ser450Ile
ENST00000620350.4:c.1349G>T	ENSP00000484634.1:p.Ser450Ile
NM_012472.4:c.1349G>T	NP_036604.2:p.Ser450Ile
NR_073525.1:n.1573G>T
XM_006716538.2:c.1367G>T	XP_006716601.2:p.Ser456Ile
XM_011516950.1:c.1307G>T	XP_011515252.1:p.Ser436Ile
XM_011516952.1:c.1103G>T	XP_011515254.1:p.Ser368Ile
XM_011516953.1:c.989G>T	XP_011515255.1:p.Ser330Ile
XM_011516954.1:c.989G>T	XP_011515256.1:p.Ser330Ile
XR_428377.2:n.1601G>T
NM_001321961.1:c.1289G>T	NP_001308890.1:p.Ser430Ile
NM_001321962.1:c.1103G>T	NP_001308891.1:p.Ser368Ile
NM_001321963.1:c.989G>T	NP_001308892.1:p.Ser330Ile
NM_001321964.1:c.989G>T	NP_001308893.1:p.Ser330Ile
NM_001321965.1:c.989G>T	NP_001308894.1:p.Ser330Ile
NM_001321966.1:c.929G>T	NP_001308895.1:p.Ser310Ile
NM_012472.5:c.1349G>T	NP_036604.2:p.Ser450Ile
NR_073525.2:n.1573G>T
NR_135905.1:n.1562G>T
NR_135906.1:n.1003G>T
NR_135907.1:n.1249G>T
NR_135908.1:n.943G>T
NR_135909.1:n.1367G>T
NR_135910.1:n.1674G>T
NR_135911.1:n.1753G>T
NR_135912.1:n.2312G>T
NR_135913.1:n.1999G>T
XM_006716538.3:c.1367G>T	XP_006716601.2:p.Ser456Ile
XM_011516950.2:c.1307G>T	XP_011515252.1:p.Ser436Ile
XM_017013296.1:c.1247G>T	XP_016868785.1:p.Ser416Ile
XM_017013297.1:c.989G>T	XP_016868786.1:p.Ser330Ile
XM_017013298.1:c.989G>T	XP_016868787.1:p.Ser330Ile
NM_012472.6:c.1349G>T MANE Select	NP_036604.2:p.Ser450Ile
NM_001321961.2:c.1289G>T	NP_001308890.1:p.Ser430Ile
NM_001321962.2:c.1103G>T	NP_001308891.1:p.Ser368Ile
NM_001321963.2:c.989G>T	NP_001308892.1:p.Ser330Ile
NM_001321964.2:c.989G>T	NP_001308893.1:p.Ser330Ile
NM_001321965.2:c.989G>T	NP_001308894.1:p.Ser330Ile
NM_001321966.2:c.929G>T	NP_001308895.1:p.Ser310Ile
NR_073525.3:n.1501G>T
NR_135905.2:n.1490G>T
NR_135906.2:n.931G>T
NR_135907.2:n.1177G>T
NR_135908.2:n.871G>T
NR_135909.2:n.1387G>T
NR_135910.2:n.1737G>T
NR_135911.2:n.1857G>T
NR_135912.2:n.2416G>T
NR_135913.2:n.2103G>T