Canonical Allele Identifier: CA186268564

Gene: DNAAF11

Linked Data

• dbSNP Id: rs758116681
• gnomAD v4: 8-132572382-C-G
• MyVariant Identifiers: chr8:g.133584630C>G (hg19) ; chr8:g.132572382C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572382C>G , CM000670.2:g.132572382C>G	GRCh38
NC_000008.10:g.133584630C>G , CM000670.1:g.133584630C>G	GRCh37
NC_000008.9:g.133653812C>G	NCBI36
NG_033068.1:g.108234G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1325G>C MANE Select	ENSP00000484634.1:p.Arg442Pro
ENST00000250173.5:c.*189G>C	ENSP00000250173.2:n.*189G>C
ENST00000518642.5:c.*189G>C	ENSP00000428610.1:n.*189G>C
ENST00000519595.5:c.1325G>C	ENSP00000429791.1:p.Arg442Pro
ENST00000522789.5:c.545G>C	ENSP00000428015.1:p.Arg182Pro
ENST00000618342.1:c.1325G>C	ENSP00000484802.1:p.Arg442Pro
ENST00000620350.4:c.1325G>C	ENSP00000484634.1:p.Arg442Pro
NM_012472.4:c.1325G>C	NP_036604.2:p.Arg442Pro
NR_073525.1:n.1549G>C
XM_006716538.2:c.1343G>C	XP_006716601.2:p.Arg448Pro
XM_011516950.1:c.1283G>C	XP_011515252.1:p.Arg428Pro
XM_011516952.1:c.1079G>C	XP_011515254.1:p.Arg360Pro
XM_011516953.1:c.965G>C	XP_011515255.1:p.Arg322Pro
XM_011516954.1:c.965G>C	XP_011515256.1:p.Arg322Pro
XR_428377.2:n.1577G>C
NM_001321961.1:c.1265G>C	NP_001308890.1:p.Arg422Pro
NM_001321962.1:c.1079G>C	NP_001308891.1:p.Arg360Pro
NM_001321963.1:c.965G>C	NP_001308892.1:p.Arg322Pro
NM_001321964.1:c.965G>C	NP_001308893.1:p.Arg322Pro
NM_001321965.1:c.965G>C	NP_001308894.1:p.Arg322Pro
NM_001321966.1:c.905G>C	NP_001308895.1:p.Arg302Pro
NM_012472.5:c.1325G>C	NP_036604.2:p.Arg442Pro
NR_073525.2:n.1549G>C
NR_135905.1:n.1538G>C
NR_135906.1:n.979G>C
NR_135907.1:n.1225G>C
NR_135908.1:n.919G>C
NR_135909.1:n.1343G>C
NR_135910.1:n.1650G>C
NR_135911.1:n.1729G>C
NR_135912.1:n.2288G>C
NR_135913.1:n.1975G>C
XM_006716538.3:c.1343G>C	XP_006716601.2:p.Arg448Pro
XM_011516950.2:c.1283G>C	XP_011515252.1:p.Arg428Pro
XM_017013296.1:c.1223G>C	XP_016868785.1:p.Arg408Pro
XM_017013297.1:c.965G>C	XP_016868786.1:p.Arg322Pro
XM_017013298.1:c.965G>C	XP_016868787.1:p.Arg322Pro
NM_012472.6:c.1325G>C MANE Select	NP_036604.2:p.Arg442Pro
NM_001321961.2:c.1265G>C	NP_001308890.1:p.Arg422Pro
NM_001321962.2:c.1079G>C	NP_001308891.1:p.Arg360Pro
NM_001321963.2:c.965G>C	NP_001308892.1:p.Arg322Pro
NM_001321964.2:c.965G>C	NP_001308893.1:p.Arg322Pro
NM_001321965.2:c.965G>C	NP_001308894.1:p.Arg322Pro
NM_001321966.2:c.905G>C	NP_001308895.1:p.Arg302Pro
NR_073525.3:n.1477G>C
NR_135905.2:n.1466G>C
NR_135906.2:n.907G>C
NR_135907.2:n.1153G>C
NR_135908.2:n.847G>C
NR_135909.2:n.1363G>C
NR_135910.2:n.1713G>C
NR_135911.2:n.1833G>C
NR_135912.2:n.2392G>C
NR_135913.2:n.2079G>C