Canonical Allele Identifier: CA372292039

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584722C>G (hg19) ; chr8:g.132572474C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572474C>G , CM000670.2:g.132572474C>G	GRCh38
NC_000008.10:g.133584722C>G , CM000670.1:g.133584722C>G	GRCh37
NC_000008.9:g.133653904C>G	NCBI36
NG_033068.1:g.108142G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000620350.5:c.1233G>C MANE Select	ENSP00000484634.1:p.Lys411Asn
ENST00000250173.5:c.*97G>C	ENSP00000250173.2:n.*97G>C
ENST00000518642.5:c.*97G>C	ENSP00000428610.1:n.*97G>C
ENST00000519595.5:c.1233G>C	ENSP00000429791.1:p.Lys411Asn
ENST00000522597.1:n.502G>C
ENST00000522789.5:c.453G>C	ENSP00000428015.1:p.Lys151Asn
ENST00000618342.1:c.1233G>C	ENSP00000484802.1:p.Lys411Asn
ENST00000620350.4:c.1233G>C	ENSP00000484634.1:p.Lys411Asn
NM_012472.4:c.1233G>C	NP_036604.2:p.Lys411Asn
NR_073525.1:n.1457G>C
XM_006716538.2:c.1251G>C	XP_006716601.2:p.Lys417Asn
XM_011516950.1:c.1191G>C	XP_011515252.1:p.Lys397Asn
XM_011516952.1:c.987G>C	XP_011515254.1:p.Lys329Asn
XM_011516953.1:c.873G>C	XP_011515255.1:p.Lys291Asn
XM_011516954.1:c.873G>C	XP_011515256.1:p.Lys291Asn
XR_428377.2:n.1485G>C
NM_001321961.1:c.1173G>C	NP_001308890.1:p.Lys391Asn
NM_001321962.1:c.987G>C	NP_001308891.1:p.Lys329Asn
NM_001321963.1:c.873G>C	NP_001308892.1:p.Lys291Asn
NM_001321964.1:c.873G>C	NP_001308893.1:p.Lys291Asn
NM_001321965.1:c.873G>C	NP_001308894.1:p.Lys291Asn
NM_001321966.1:c.813G>C	NP_001308895.1:p.Lys271Asn
NM_012472.5:c.1233G>C	NP_036604.2:p.Lys411Asn
NR_073525.2:n.1457G>C
NR_135905.1:n.1446G>C
NR_135906.1:n.887G>C
NR_135907.1:n.1133G>C
NR_135908.1:n.827G>C
NR_135909.1:n.1251G>C
NR_135910.1:n.1558G>C
NR_135911.1:n.1637G>C
NR_135912.1:n.2196G>C
NR_135913.1:n.1883G>C
XM_006716538.3:c.1251G>C	XP_006716601.2:p.Lys417Asn
XM_011516950.2:c.1191G>C	XP_011515252.1:p.Lys397Asn
XM_017013296.1:c.1131G>C	XP_016868785.1:p.Lys377Asn
XM_017013297.1:c.873G>C	XP_016868786.1:p.Lys291Asn
XM_017013298.1:c.873G>C	XP_016868787.1:p.Lys291Asn
NM_012472.6:c.1233G>C MANE Select	NP_036604.2:p.Lys411Asn
NM_001321961.2:c.1173G>C	NP_001308890.1:p.Lys391Asn
NM_001321962.2:c.987G>C	NP_001308891.1:p.Lys329Asn
NM_001321963.2:c.873G>C	NP_001308892.1:p.Lys291Asn
NM_001321964.2:c.873G>C	NP_001308893.1:p.Lys291Asn
NM_001321965.2:c.873G>C	NP_001308894.1:p.Lys291Asn
NM_001321966.2:c.813G>C	NP_001308895.1:p.Lys271Asn
NR_073525.3:n.1385G>C
NR_135905.2:n.1374G>C
NR_135906.2:n.815G>C
NR_135907.2:n.1061G>C
NR_135908.2:n.755G>C
NR_135909.2:n.1271G>C
NR_135910.2:n.1621G>C
NR_135911.2:n.1741G>C
NR_135912.2:n.2300G>C
NR_135913.2:n.1987G>C