Canonical Allele Identifier: CA585279354

Gene: DNAAF11

Linked Data

• dbSNP Id: rs1217091004
• gnomAD v2: 8-133584536-G-A
• gnomAD v3: 8-132572288-G-A
• gnomAD v4: 8-132572288-G-A
• MyVariant Identifiers: chr8:g.133584536G>A (hg19) ; chr8:g.132572288G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572288G>A , CM000670.2:g.132572288G>A	GRCh38
NC_000008.10:g.133584536G>A , CM000670.1:g.133584536G>A	GRCh37
NC_000008.9:g.133653718G>A	NCBI36
NG_033068.1:g.108328C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.*18C>T MANE Select	ENSP00000484634.1:n.*18C>T
ENST00000250173.5:c.*283C>T	ENSP00000250173.2:n.*283C>T
ENST00000518642.5:c.*283C>T	ENSP00000428610.1:n.*283C>T
ENST00000519595.5:c.*18C>T	ENSP00000429791.1:n.*18C>T
ENST00000522789.5:c.639C>T	ENSP00000428015.1:n.639C>T
ENST00000618342.1:c.1419C>T	ENSP00000484802.1:n.1419C>T
ENST00000620350.4:c.*18C>T	ENSP00000484634.1:n.*18C>T
NM_012472.4:c.*18C>T	NP_036604.2:n.*18C>T
NR_073525.1:n.1643C>T
XM_006716538.2:c.*18C>T	XP_006716601.2:n.*18C>T
XM_011516950.1:c.*18C>T	XP_011515252.1:n.*18C>T
XM_011516952.1:c.*18C>T	XP_011515254.1:n.*18C>T
XM_011516953.1:c.*18C>T	XP_011515255.1:n.*18C>T
XM_011516954.1:c.*18C>T	XP_011515256.1:n.*18C>T
XR_428377.2:n.1671C>T
NM_001321961.1:c.*18C>T	NP_001308890.1:n.*18C>T
NM_001321962.1:c.*18C>T	NP_001308891.1:n.*18C>T
NM_001321963.1:c.*18C>T	NP_001308892.1:n.*18C>T
NM_001321964.1:c.*18C>T	NP_001308893.1:n.*18C>T
NM_001321965.1:c.*18C>T	NP_001308894.1:n.*18C>T
NM_001321966.1:c.*18C>T	NP_001308895.1:n.*18C>T
NM_012472.5:c.*18C>T	NP_036604.2:n.*18C>T
NR_073525.2:n.1643C>T
NR_135905.1:n.1632C>T
NR_135906.1:n.1073C>T
NR_135907.1:n.1319C>T
NR_135908.1:n.1013C>T
NR_135909.1:n.1437C>T
NR_135910.1:n.1744C>T
NR_135911.1:n.1823C>T
NR_135912.1:n.2382C>T
NR_135913.1:n.2069C>T
XM_006716538.3:c.*18C>T	XP_006716601.2:n.*18C>T
XM_011516950.2:c.*18C>T	XP_011515252.1:n.*18C>T
XM_017013296.1:c.*18C>T	XP_016868785.1:n.*18C>T
XM_017013297.1:c.*18C>T	XP_016868786.1:n.*18C>T
XM_017013298.1:c.*18C>T	XP_016868787.1:n.*18C>T
NM_012472.6:c.*18C>T MANE Select	NP_036604.2:n.*18C>T
NM_001321961.2:c.*18C>T	NP_001308890.1:n.*18C>T
NM_001321962.2:c.*18C>T	NP_001308891.1:n.*18C>T
NM_001321963.2:c.*18C>T	NP_001308892.1:n.*18C>T
NM_001321964.2:c.*18C>T	NP_001308893.1:n.*18C>T
NM_001321965.2:c.*18C>T	NP_001308894.1:n.*18C>T
NM_001321966.2:c.*18C>T	NP_001308895.1:n.*18C>T
NR_073525.3:n.1571C>T
NR_135905.2:n.1560C>T
NR_135906.2:n.1001C>T
NR_135907.2:n.1247C>T
NR_135908.2:n.941C>T
NR_135909.2:n.1457C>T
NR_135910.2:n.1807C>T
NR_135911.2:n.1927C>T
NR_135912.2:n.2486C>T
NR_135913.2:n.2173C>T