Canonical Allele Identifier: CA4881316

Gene: DNAAF11

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132625389A>G , CM000670.2:g.132625389A>G	GRCh38
NC_000008.10:g.133637635A>G , CM000670.1:g.133637635A>G	GRCh37
NC_000008.9:g.133706817A>G	NCBI36
NG_033068.1:g.55229T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_012472.6:c.719T>C MANE Select	NP_036604.2:p.Leu240Ser
ENST00000620350.5:c.719T>C MANE Select	ENSP00000484634.1:p.Leu240Ser
NM_001321961.1:c.719T>C	NP_001308890.1:p.Leu240Ser
NM_001321961.2:c.719T>C	NP_001308890.1:p.Leu240Ser
NM_001321962.1:c.473T>C	NP_001308891.1:p.Leu158Ser
NM_001321962.2:c.473T>C	NP_001308891.1:p.Leu158Ser
NM_001321963.1:c.359T>C	NP_001308892.1:p.Leu120Ser
NM_001321963.2:c.359T>C	NP_001308892.1:p.Leu120Ser
NM_001321964.1:c.359T>C	NP_001308893.1:p.Leu120Ser
NM_001321964.2:c.359T>C	NP_001308893.1:p.Leu120Ser
NM_001321965.1:c.359T>C	NP_001308894.1:p.Leu120Ser
NM_001321965.2:c.359T>C	NP_001308894.1:p.Leu120Ser
NM_001321966.1:c.359T>C	NP_001308895.1:p.Leu120Ser
NM_001321966.2:c.359T>C	NP_001308895.1:p.Leu120Ser
NM_012472.4:c.719T>C	NP_036604.2:p.Leu240Ser
NM_012472.5:c.719T>C	NP_036604.2:p.Leu240Ser
NR_073525.1:n.843T>C
NR_073525.2:n.843T>C
NR_073525.3:n.771T>C
NR_135905.1:n.932T>C
NR_135905.2:n.860T>C
NR_135906.1:n.373T>C
NR_135906.2:n.301T>C
NR_135907.1:n.619T>C
NR_135907.2:n.547T>C
NR_135908.1:n.373T>C
NR_135908.2:n.301T>C
NR_135909.1:n.737T>C
NR_135909.2:n.757T>C
NR_135910.1:n.1044T>C
NR_135910.2:n.1107T>C
NR_135911.1:n.1123T>C
NR_135911.2:n.1227T>C
NR_135912.1:n.1682T>C
NR_135912.2:n.1786T>C
NR_135913.1:n.1369T>C
NR_135913.2:n.1473T>C
ENST00000250173.5:c.719T>C	ENSP00000250173.2:p.Leu240Ser
ENST00000518642.5:c.719T>C	ENSP00000428610.1:p.Leu240Ser
ENST00000519595.5:c.719T>C	ENSP00000429791.1:p.Leu240Ser
ENST00000520446.5:n.594T>C
ENST00000523503.1:n.481T>C
ENST00000618342.1:c.719T>C	ENSP00000484802.1:p.Leu240Ser
ENST00000620350.4:c.719T>C	ENSP00000484634.1:p.Leu240Ser
XM_006716538.2:c.737T>C	XP_006716601.2:p.Leu246Ser
XM_006716538.3:c.737T>C	XP_006716601.2:p.Leu246Ser
XM_011516950.1:c.737T>C	XP_011515252.1:p.Leu246Ser
XM_011516950.2:c.737T>C	XP_011515252.1:p.Leu246Ser
XM_011516951.1:c.737T>C	XP_011515253.1:p.Leu246Ser
XM_011516952.1:c.473T>C	XP_011515254.1:p.Leu158Ser
XM_011516953.1:c.359T>C	XP_011515255.1:p.Leu120Ser
XM_011516954.1:c.359T>C	XP_011515256.1:p.Leu120Ser
XM_017013296.1:c.617T>C	XP_016868785.1:p.Leu206Ser
XM_017013297.1:c.359T>C	XP_016868786.1:p.Leu120Ser
XM_017013298.1:c.359T>C	XP_016868787.1:p.Leu120Ser
XR_428377.2:n.862T>C