Canonical Allele Identifier: CA372292010

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584711T>G (hg19) ; chr8:g.132572463T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572463T>G , CM000670.2:g.132572463T>G	GRCh38
NC_000008.10:g.133584711T>G , CM000670.1:g.133584711T>G	GRCh37
NC_000008.9:g.133653893T>G	NCBI36
NG_033068.1:g.108153A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000620350.5:c.1244A>C MANE Select	ENSP00000484634.1:p.Lys415Thr
ENST00000250173.5:c.*108A>C	ENSP00000250173.2:n.*108A>C
ENST00000518642.5:c.*108A>C	ENSP00000428610.1:n.*108A>C
ENST00000519595.5:c.1244A>C	ENSP00000429791.1:p.Lys415Thr
ENST00000522597.1:n.513A>C
ENST00000522789.5:c.464A>C	ENSP00000428015.1:p.Lys155Thr
ENST00000618342.1:c.1244A>C	ENSP00000484802.1:p.Lys415Thr
ENST00000620350.4:c.1244A>C	ENSP00000484634.1:p.Lys415Thr
NM_012472.4:c.1244A>C	NP_036604.2:p.Lys415Thr
NR_073525.1:n.1468A>C
XM_006716538.2:c.1262A>C	XP_006716601.2:p.Lys421Thr
XM_011516950.1:c.1202A>C	XP_011515252.1:p.Lys401Thr
XM_011516952.1:c.998A>C	XP_011515254.1:p.Lys333Thr
XM_011516953.1:c.884A>C	XP_011515255.1:p.Lys295Thr
XM_011516954.1:c.884A>C	XP_011515256.1:p.Lys295Thr
XR_428377.2:n.1496A>C
NM_001321961.1:c.1184A>C	NP_001308890.1:p.Lys395Thr
NM_001321962.1:c.998A>C	NP_001308891.1:p.Lys333Thr
NM_001321963.1:c.884A>C	NP_001308892.1:p.Lys295Thr
NM_001321964.1:c.884A>C	NP_001308893.1:p.Lys295Thr
NM_001321965.1:c.884A>C	NP_001308894.1:p.Lys295Thr
NM_001321966.1:c.824A>C	NP_001308895.1:p.Lys275Thr
NM_012472.5:c.1244A>C	NP_036604.2:p.Lys415Thr
NR_073525.2:n.1468A>C
NR_135905.1:n.1457A>C
NR_135906.1:n.898A>C
NR_135907.1:n.1144A>C
NR_135908.1:n.838A>C
NR_135909.1:n.1262A>C
NR_135910.1:n.1569A>C
NR_135911.1:n.1648A>C
NR_135912.1:n.2207A>C
NR_135913.1:n.1894A>C
XM_006716538.3:c.1262A>C	XP_006716601.2:p.Lys421Thr
XM_011516950.2:c.1202A>C	XP_011515252.1:p.Lys401Thr
XM_017013296.1:c.1142A>C	XP_016868785.1:p.Lys381Thr
XM_017013297.1:c.884A>C	XP_016868786.1:p.Lys295Thr
XM_017013298.1:c.884A>C	XP_016868787.1:p.Lys295Thr
NM_012472.6:c.1244A>C MANE Select	NP_036604.2:p.Lys415Thr
NM_001321961.2:c.1184A>C	NP_001308890.1:p.Lys395Thr
NM_001321962.2:c.998A>C	NP_001308891.1:p.Lys333Thr
NM_001321963.2:c.884A>C	NP_001308892.1:p.Lys295Thr
NM_001321964.2:c.884A>C	NP_001308893.1:p.Lys295Thr
NM_001321965.2:c.884A>C	NP_001308894.1:p.Lys295Thr
NM_001321966.2:c.824A>C	NP_001308895.1:p.Lys275Thr
NR_073525.3:n.1396A>C
NR_135905.2:n.1385A>C
NR_135906.2:n.826A>C
NR_135907.2:n.1072A>C
NR_135908.2:n.766A>C
NR_135909.2:n.1282A>C
NR_135910.2:n.1632A>C
NR_135911.2:n.1752A>C
NR_135912.2:n.2311A>C
NR_135913.2:n.1998A>C