Canonical Allele Identifier: CA372292045

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584724T>G (hg19) ; chr8:g.132572476T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572476T>G , CM000670.2:g.132572476T>G	GRCh38
NC_000008.10:g.133584724T>G , CM000670.1:g.133584724T>G	GRCh37
NC_000008.9:g.133653906T>G	NCBI36
NG_033068.1:g.108140A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000620350.5:c.1231A>C MANE Select	ENSP00000484634.1:p.Lys411Gln
ENST00000250173.5:c.*95A>C	ENSP00000250173.2:n.*95A>C
ENST00000518642.5:c.*95A>C	ENSP00000428610.1:n.*95A>C
ENST00000519595.5:c.1231A>C	ENSP00000429791.1:p.Lys411Gln
ENST00000522597.1:n.500A>C
ENST00000522789.5:c.451A>C	ENSP00000428015.1:p.Lys151Gln
ENST00000618342.1:c.1231A>C	ENSP00000484802.1:p.Lys411Gln
ENST00000620350.4:c.1231A>C	ENSP00000484634.1:p.Lys411Gln
NM_012472.4:c.1231A>C	NP_036604.2:p.Lys411Gln
NR_073525.1:n.1455A>C
XM_006716538.2:c.1249A>C	XP_006716601.2:p.Lys417Gln
XM_011516950.1:c.1189A>C	XP_011515252.1:p.Lys397Gln
XM_011516952.1:c.985A>C	XP_011515254.1:p.Lys329Gln
XM_011516953.1:c.871A>C	XP_011515255.1:p.Lys291Gln
XM_011516954.1:c.871A>C	XP_011515256.1:p.Lys291Gln
XR_428377.2:n.1483A>C
NM_001321961.1:c.1171A>C	NP_001308890.1:p.Lys391Gln
NM_001321962.1:c.985A>C	NP_001308891.1:p.Lys329Gln
NM_001321963.1:c.871A>C	NP_001308892.1:p.Lys291Gln
NM_001321964.1:c.871A>C	NP_001308893.1:p.Lys291Gln
NM_001321965.1:c.871A>C	NP_001308894.1:p.Lys291Gln
NM_001321966.1:c.811A>C	NP_001308895.1:p.Lys271Gln
NM_012472.5:c.1231A>C	NP_036604.2:p.Lys411Gln
NR_073525.2:n.1455A>C
NR_135905.1:n.1444A>C
NR_135906.1:n.885A>C
NR_135907.1:n.1131A>C
NR_135908.1:n.825A>C
NR_135909.1:n.1249A>C
NR_135910.1:n.1556A>C
NR_135911.1:n.1635A>C
NR_135912.1:n.2194A>C
NR_135913.1:n.1881A>C
XM_006716538.3:c.1249A>C	XP_006716601.2:p.Lys417Gln
XM_011516950.2:c.1189A>C	XP_011515252.1:p.Lys397Gln
XM_017013296.1:c.1129A>C	XP_016868785.1:p.Lys377Gln
XM_017013297.1:c.871A>C	XP_016868786.1:p.Lys291Gln
XM_017013298.1:c.871A>C	XP_016868787.1:p.Lys291Gln
NM_012472.6:c.1231A>C MANE Select	NP_036604.2:p.Lys411Gln
NM_001321961.2:c.1171A>C	NP_001308890.1:p.Lys391Gln
NM_001321962.2:c.985A>C	NP_001308891.1:p.Lys329Gln
NM_001321963.2:c.871A>C	NP_001308892.1:p.Lys291Gln
NM_001321964.2:c.871A>C	NP_001308893.1:p.Lys291Gln
NM_001321965.2:c.871A>C	NP_001308894.1:p.Lys291Gln
NM_001321966.2:c.811A>C	NP_001308895.1:p.Lys271Gln
NR_073525.3:n.1383A>C
NR_135905.2:n.1372A>C
NR_135906.2:n.813A>C
NR_135907.2:n.1059A>C
NR_135908.2:n.753A>C
NR_135909.2:n.1269A>C
NR_135910.2:n.1619A>C
NR_135911.2:n.1739A>C
NR_135912.2:n.2298A>C
NR_135913.2:n.1985A>C