Canonical Allele Identifier: CA372291870

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584649T>A (hg19) ; chr8:g.132572401T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572401T>A , CM000670.2:g.132572401T>A	GRCh38
NC_000008.10:g.133584649T>A , CM000670.1:g.133584649T>A	GRCh37
NC_000008.9:g.133653831T>A	NCBI36
NG_033068.1:g.108215A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1306A>T MANE Select	ENSP00000484634.1:p.Lys436Ter
ENST00000250173.5:c.*170A>T	ENSP00000250173.2:n.*170A>T
ENST00000518642.5:c.*170A>T	ENSP00000428610.1:n.*170A>T
ENST00000519595.5:c.1306A>T	ENSP00000429791.1:p.Lys436Ter
ENST00000522789.5:c.526A>T	ENSP00000428015.1:p.Lys176Ter
ENST00000618342.1:c.1306A>T	ENSP00000484802.1:p.Lys436Ter
ENST00000620350.4:c.1306A>T	ENSP00000484634.1:p.Lys436Ter
NM_012472.4:c.1306A>T	NP_036604.2:p.Lys436Ter
NR_073525.1:n.1530A>T
XM_006716538.2:c.1324A>T	XP_006716601.2:p.Lys442Ter
XM_011516950.1:c.1264A>T	XP_011515252.1:p.Lys422Ter
XM_011516952.1:c.1060A>T	XP_011515254.1:p.Lys354Ter
XM_011516953.1:c.946A>T	XP_011515255.1:p.Lys316Ter
XM_011516954.1:c.946A>T	XP_011515256.1:p.Lys316Ter
XR_428377.2:n.1558A>T
NM_001321961.1:c.1246A>T	NP_001308890.1:p.Lys416Ter
NM_001321962.1:c.1060A>T	NP_001308891.1:p.Lys354Ter
NM_001321963.1:c.946A>T	NP_001308892.1:p.Lys316Ter
NM_001321964.1:c.946A>T	NP_001308893.1:p.Lys316Ter
NM_001321965.1:c.946A>T	NP_001308894.1:p.Lys316Ter
NM_001321966.1:c.886A>T	NP_001308895.1:p.Lys296Ter
NM_012472.5:c.1306A>T	NP_036604.2:p.Lys436Ter
NR_073525.2:n.1530A>T
NR_135905.1:n.1519A>T
NR_135906.1:n.960A>T
NR_135907.1:n.1206A>T
NR_135908.1:n.900A>T
NR_135909.1:n.1324A>T
NR_135910.1:n.1631A>T
NR_135911.1:n.1710A>T
NR_135912.1:n.2269A>T
NR_135913.1:n.1956A>T
XM_006716538.3:c.1324A>T	XP_006716601.2:p.Lys442Ter
XM_011516950.2:c.1264A>T	XP_011515252.1:p.Lys422Ter
XM_017013296.1:c.1204A>T	XP_016868785.1:p.Lys402Ter
XM_017013297.1:c.946A>T	XP_016868786.1:p.Lys316Ter
XM_017013298.1:c.946A>T	XP_016868787.1:p.Lys316Ter
NM_012472.6:c.1306A>T MANE Select	NP_036604.2:p.Lys436Ter
NM_001321961.2:c.1246A>T	NP_001308890.1:p.Lys416Ter
NM_001321962.2:c.1060A>T	NP_001308891.1:p.Lys354Ter
NM_001321963.2:c.946A>T	NP_001308892.1:p.Lys316Ter
NM_001321964.2:c.946A>T	NP_001308893.1:p.Lys316Ter
NM_001321965.2:c.946A>T	NP_001308894.1:p.Lys316Ter
NM_001321966.2:c.886A>T	NP_001308895.1:p.Lys296Ter
NR_073525.3:n.1458A>T
NR_135905.2:n.1447A>T
NR_135906.2:n.888A>T
NR_135907.2:n.1134A>T
NR_135908.2:n.828A>T
NR_135909.2:n.1344A>T
NR_135910.2:n.1694A>T
NR_135911.2:n.1814A>T
NR_135912.2:n.2373A>T
NR_135913.2:n.2060A>T