Canonical Allele Identifier: CA372291866

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584647T>G (hg19) ; chr8:g.132572399T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572399T>G , CM000670.2:g.132572399T>G	GRCh38
NC_000008.10:g.133584647T>G , CM000670.1:g.133584647T>G	GRCh37
NC_000008.9:g.133653829T>G	NCBI36
NG_033068.1:g.108217A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1308A>C MANE Select	ENSP00000484634.1:p.Lys436Asn
ENST00000250173.5:c.*172A>C	ENSP00000250173.2:n.*172A>C
ENST00000518642.5:c.*172A>C	ENSP00000428610.1:n.*172A>C
ENST00000519595.5:c.1308A>C	ENSP00000429791.1:p.Lys436Asn
ENST00000522789.5:c.528A>C	ENSP00000428015.1:p.Lys176Asn
ENST00000618342.1:c.1308A>C	ENSP00000484802.1:p.Lys436Asn
ENST00000620350.4:c.1308A>C	ENSP00000484634.1:p.Lys436Asn
NM_012472.4:c.1308A>C	NP_036604.2:p.Lys436Asn
NR_073525.1:n.1532A>C
XM_006716538.2:c.1326A>C	XP_006716601.2:p.Lys442Asn
XM_011516950.1:c.1266A>C	XP_011515252.1:p.Lys422Asn
XM_011516952.1:c.1062A>C	XP_011515254.1:p.Lys354Asn
XM_011516953.1:c.948A>C	XP_011515255.1:p.Lys316Asn
XM_011516954.1:c.948A>C	XP_011515256.1:p.Lys316Asn
XR_428377.2:n.1560A>C
NM_001321961.1:c.1248A>C	NP_001308890.1:p.Lys416Asn
NM_001321962.1:c.1062A>C	NP_001308891.1:p.Lys354Asn
NM_001321963.1:c.948A>C	NP_001308892.1:p.Lys316Asn
NM_001321964.1:c.948A>C	NP_001308893.1:p.Lys316Asn
NM_001321965.1:c.948A>C	NP_001308894.1:p.Lys316Asn
NM_001321966.1:c.888A>C	NP_001308895.1:p.Lys296Asn
NM_012472.5:c.1308A>C	NP_036604.2:p.Lys436Asn
NR_073525.2:n.1532A>C
NR_135905.1:n.1521A>C
NR_135906.1:n.962A>C
NR_135907.1:n.1208A>C
NR_135908.1:n.902A>C
NR_135909.1:n.1326A>C
NR_135910.1:n.1633A>C
NR_135911.1:n.1712A>C
NR_135912.1:n.2271A>C
NR_135913.1:n.1958A>C
XM_006716538.3:c.1326A>C	XP_006716601.2:p.Lys442Asn
XM_011516950.2:c.1266A>C	XP_011515252.1:p.Lys422Asn
XM_017013296.1:c.1206A>C	XP_016868785.1:p.Lys402Asn
XM_017013297.1:c.948A>C	XP_016868786.1:p.Lys316Asn
XM_017013298.1:c.948A>C	XP_016868787.1:p.Lys316Asn
NM_012472.6:c.1308A>C MANE Select	NP_036604.2:p.Lys436Asn
NM_001321961.2:c.1248A>C	NP_001308890.1:p.Lys416Asn
NM_001321962.2:c.1062A>C	NP_001308891.1:p.Lys354Asn
NM_001321963.2:c.948A>C	NP_001308892.1:p.Lys316Asn
NM_001321964.2:c.948A>C	NP_001308893.1:p.Lys316Asn
NM_001321965.2:c.948A>C	NP_001308894.1:p.Lys316Asn
NM_001321966.2:c.888A>C	NP_001308895.1:p.Lys296Asn
NR_073525.3:n.1460A>C
NR_135905.2:n.1449A>C
NR_135906.2:n.890A>C
NR_135907.2:n.1136A>C
NR_135908.2:n.830A>C
NR_135909.2:n.1346A>C
NR_135910.2:n.1696A>C
NR_135911.2:n.1816A>C
NR_135912.2:n.2375A>C
NR_135913.2:n.2062A>C