Canonical Allele Identifier: CA372291986

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584700C>A (hg19) ; chr8:g.132572452C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572452C>A , CM000670.2:g.132572452C>A	GRCh38
NC_000008.10:g.133584700C>A , CM000670.1:g.133584700C>A	GRCh37
NC_000008.9:g.133653882C>A	NCBI36
NG_033068.1:g.108164G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1255G>T MANE Select	ENSP00000484634.1:p.Asp419Tyr
ENST00000250173.5:c.*119G>T	ENSP00000250173.2:n.*119G>T
ENST00000518642.5:c.*119G>T	ENSP00000428610.1:n.*119G>T
ENST00000519595.5:c.1255G>T	ENSP00000429791.1:p.Asp419Tyr
ENST00000522597.1:n.524G>T
ENST00000522789.5:c.475G>T	ENSP00000428015.1:p.Asp159Tyr
ENST00000618342.1:c.1255G>T	ENSP00000484802.1:p.Asp419Tyr
ENST00000620350.4:c.1255G>T	ENSP00000484634.1:p.Asp419Tyr
NM_012472.4:c.1255G>T	NP_036604.2:p.Asp419Tyr
NR_073525.1:n.1479G>T
XM_006716538.2:c.1273G>T	XP_006716601.2:p.Asp425Tyr
XM_011516950.1:c.1213G>T	XP_011515252.1:p.Asp405Tyr
XM_011516952.1:c.1009G>T	XP_011515254.1:p.Asp337Tyr
XM_011516953.1:c.895G>T	XP_011515255.1:p.Asp299Tyr
XM_011516954.1:c.895G>T	XP_011515256.1:p.Asp299Tyr
XR_428377.2:n.1507G>T
NM_001321961.1:c.1195G>T	NP_001308890.1:p.Asp399Tyr
NM_001321962.1:c.1009G>T	NP_001308891.1:p.Asp337Tyr
NM_001321963.1:c.895G>T	NP_001308892.1:p.Asp299Tyr
NM_001321964.1:c.895G>T	NP_001308893.1:p.Asp299Tyr
NM_001321965.1:c.895G>T	NP_001308894.1:p.Asp299Tyr
NM_001321966.1:c.835G>T	NP_001308895.1:p.Asp279Tyr
NM_012472.5:c.1255G>T	NP_036604.2:p.Asp419Tyr
NR_073525.2:n.1479G>T
NR_135905.1:n.1468G>T
NR_135906.1:n.909G>T
NR_135907.1:n.1155G>T
NR_135908.1:n.849G>T
NR_135909.1:n.1273G>T
NR_135910.1:n.1580G>T
NR_135911.1:n.1659G>T
NR_135912.1:n.2218G>T
NR_135913.1:n.1905G>T
XM_006716538.3:c.1273G>T	XP_006716601.2:p.Asp425Tyr
XM_011516950.2:c.1213G>T	XP_011515252.1:p.Asp405Tyr
XM_017013296.1:c.1153G>T	XP_016868785.1:p.Asp385Tyr
XM_017013297.1:c.895G>T	XP_016868786.1:p.Asp299Tyr
XM_017013298.1:c.895G>T	XP_016868787.1:p.Asp299Tyr
NM_012472.6:c.1255G>T MANE Select	NP_036604.2:p.Asp419Tyr
NM_001321961.2:c.1195G>T	NP_001308890.1:p.Asp399Tyr
NM_001321962.2:c.1009G>T	NP_001308891.1:p.Asp337Tyr
NM_001321963.2:c.895G>T	NP_001308892.1:p.Asp299Tyr
NM_001321964.2:c.895G>T	NP_001308893.1:p.Asp299Tyr
NM_001321965.2:c.895G>T	NP_001308894.1:p.Asp299Tyr
NM_001321966.2:c.835G>T	NP_001308895.1:p.Asp279Tyr
NR_073525.3:n.1407G>T
NR_135905.2:n.1396G>T
NR_135906.2:n.837G>T
NR_135907.2:n.1083G>T
NR_135908.2:n.777G>T
NR_135909.2:n.1293G>T
NR_135910.2:n.1643G>T
NR_135911.2:n.1763G>T
NR_135912.2:n.2322G>T
NR_135913.2:n.2009G>T