Canonical Allele Identifier: CA372291990

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584702A>G (hg19) ; chr8:g.132572454A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572454A>G , CM000670.2:g.132572454A>G	GRCh38
NC_000008.10:g.133584702A>G , CM000670.1:g.133584702A>G	GRCh37
NC_000008.9:g.133653884A>G	NCBI36
NG_033068.1:g.108162T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1253T>C MANE Select	ENSP00000484634.1:p.Val418Ala
ENST00000250173.5:c.*117T>C	ENSP00000250173.2:n.*117T>C
ENST00000518642.5:c.*117T>C	ENSP00000428610.1:n.*117T>C
ENST00000519595.5:c.1253T>C	ENSP00000429791.1:p.Val418Ala
ENST00000522597.1:n.522T>C
ENST00000522789.5:c.473T>C	ENSP00000428015.1:p.Val158Ala
ENST00000618342.1:c.1253T>C	ENSP00000484802.1:p.Val418Ala
ENST00000620350.4:c.1253T>C	ENSP00000484634.1:p.Val418Ala
NM_012472.4:c.1253T>C	NP_036604.2:p.Val418Ala
NR_073525.1:n.1477T>C
XM_006716538.2:c.1271T>C	XP_006716601.2:p.Val424Ala
XM_011516950.1:c.1211T>C	XP_011515252.1:p.Val404Ala
XM_011516952.1:c.1007T>C	XP_011515254.1:p.Val336Ala
XM_011516953.1:c.893T>C	XP_011515255.1:p.Val298Ala
XM_011516954.1:c.893T>C	XP_011515256.1:p.Val298Ala
XR_428377.2:n.1505T>C
NM_001321961.1:c.1193T>C	NP_001308890.1:p.Val398Ala
NM_001321962.1:c.1007T>C	NP_001308891.1:p.Val336Ala
NM_001321963.1:c.893T>C	NP_001308892.1:p.Val298Ala
NM_001321964.1:c.893T>C	NP_001308893.1:p.Val298Ala
NM_001321965.1:c.893T>C	NP_001308894.1:p.Val298Ala
NM_001321966.1:c.833T>C	NP_001308895.1:p.Val278Ala
NM_012472.5:c.1253T>C	NP_036604.2:p.Val418Ala
NR_073525.2:n.1477T>C
NR_135905.1:n.1466T>C
NR_135906.1:n.907T>C
NR_135907.1:n.1153T>C
NR_135908.1:n.847T>C
NR_135909.1:n.1271T>C
NR_135910.1:n.1578T>C
NR_135911.1:n.1657T>C
NR_135912.1:n.2216T>C
NR_135913.1:n.1903T>C
XM_006716538.3:c.1271T>C	XP_006716601.2:p.Val424Ala
XM_011516950.2:c.1211T>C	XP_011515252.1:p.Val404Ala
XM_017013296.1:c.1151T>C	XP_016868785.1:p.Val384Ala
XM_017013297.1:c.893T>C	XP_016868786.1:p.Val298Ala
XM_017013298.1:c.893T>C	XP_016868787.1:p.Val298Ala
NM_012472.6:c.1253T>C MANE Select	NP_036604.2:p.Val418Ala
NM_001321961.2:c.1193T>C	NP_001308890.1:p.Val398Ala
NM_001321962.2:c.1007T>C	NP_001308891.1:p.Val336Ala
NM_001321963.2:c.893T>C	NP_001308892.1:p.Val298Ala
NM_001321964.2:c.893T>C	NP_001308893.1:p.Val298Ala
NM_001321965.2:c.893T>C	NP_001308894.1:p.Val298Ala
NM_001321966.2:c.833T>C	NP_001308895.1:p.Val278Ala
NR_073525.3:n.1405T>C
NR_135905.2:n.1394T>C
NR_135906.2:n.835T>C
NR_135907.2:n.1081T>C
NR_135908.2:n.775T>C
NR_135909.2:n.1291T>C
NR_135910.2:n.1641T>C
NR_135911.2:n.1761T>C
NR_135912.2:n.2320T>C
NR_135913.2:n.2007T>C