Canonical Allele Identifier: CA372291976

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584694T>G (hg19) ; chr8:g.132572446T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572446T>G , CM000670.2:g.132572446T>G	GRCh38
NC_000008.10:g.133584694T>G , CM000670.1:g.133584694T>G	GRCh37
NC_000008.9:g.133653876T>G	NCBI36
NG_033068.1:g.108170A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1261A>C MANE Select	ENSP00000484634.1:p.Ser421Arg
ENST00000250173.5:c.*125A>C	ENSP00000250173.2:n.*125A>C
ENST00000518642.5:c.*125A>C	ENSP00000428610.1:n.*125A>C
ENST00000519595.5:c.1261A>C	ENSP00000429791.1:p.Ser421Arg
ENST00000522597.1:n.530A>C
ENST00000522789.5:c.481A>C	ENSP00000428015.1:p.Ser161Arg
ENST00000618342.1:c.1261A>C	ENSP00000484802.1:p.Ser421Arg
ENST00000620350.4:c.1261A>C	ENSP00000484634.1:p.Ser421Arg
NM_012472.4:c.1261A>C	NP_036604.2:p.Ser421Arg
NR_073525.1:n.1485A>C
XM_006716538.2:c.1279A>C	XP_006716601.2:p.Ser427Arg
XM_011516950.1:c.1219A>C	XP_011515252.1:p.Ser407Arg
XM_011516952.1:c.1015A>C	XP_011515254.1:p.Ser339Arg
XM_011516953.1:c.901A>C	XP_011515255.1:p.Ser301Arg
XM_011516954.1:c.901A>C	XP_011515256.1:p.Ser301Arg
XR_428377.2:n.1513A>C
NM_001321961.1:c.1201A>C	NP_001308890.1:p.Ser401Arg
NM_001321962.1:c.1015A>C	NP_001308891.1:p.Ser339Arg
NM_001321963.1:c.901A>C	NP_001308892.1:p.Ser301Arg
NM_001321964.1:c.901A>C	NP_001308893.1:p.Ser301Arg
NM_001321965.1:c.901A>C	NP_001308894.1:p.Ser301Arg
NM_001321966.1:c.841A>C	NP_001308895.1:p.Ser281Arg
NM_012472.5:c.1261A>C	NP_036604.2:p.Ser421Arg
NR_073525.2:n.1485A>C
NR_135905.1:n.1474A>C
NR_135906.1:n.915A>C
NR_135907.1:n.1161A>C
NR_135908.1:n.855A>C
NR_135909.1:n.1279A>C
NR_135910.1:n.1586A>C
NR_135911.1:n.1665A>C
NR_135912.1:n.2224A>C
NR_135913.1:n.1911A>C
XM_006716538.3:c.1279A>C	XP_006716601.2:p.Ser427Arg
XM_011516950.2:c.1219A>C	XP_011515252.1:p.Ser407Arg
XM_017013296.1:c.1159A>C	XP_016868785.1:p.Ser387Arg
XM_017013297.1:c.901A>C	XP_016868786.1:p.Ser301Arg
XM_017013298.1:c.901A>C	XP_016868787.1:p.Ser301Arg
NM_012472.6:c.1261A>C MANE Select	NP_036604.2:p.Ser421Arg
NM_001321961.2:c.1201A>C	NP_001308890.1:p.Ser401Arg
NM_001321962.2:c.1015A>C	NP_001308891.1:p.Ser339Arg
NM_001321963.2:c.901A>C	NP_001308892.1:p.Ser301Arg
NM_001321964.2:c.901A>C	NP_001308893.1:p.Ser301Arg
NM_001321965.2:c.901A>C	NP_001308894.1:p.Ser301Arg
NM_001321966.2:c.841A>C	NP_001308895.1:p.Ser281Arg
NR_073525.3:n.1413A>C
NR_135905.2:n.1402A>C
NR_135906.2:n.843A>C
NR_135907.2:n.1089A>C
NR_135908.2:n.783A>C
NR_135909.2:n.1299A>C
NR_135910.2:n.1649A>C
NR_135911.2:n.1769A>C
NR_135912.2:n.2328A>C
NR_135913.2:n.2015A>C