Canonical Allele Identifier: CA186268538

Gene: DNAAF11

Linked Data

• dbSNP Id: rs185048372
• gnomAD v2: 8-133584355-G-A
• gnomAD v3: 8-132572107-G-A
• gnomAD v4: 8-132572107-G-A
• MyVariant Identifiers: chr8:g.133584355G>A (hg19) ; chr8:g.132572107G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572107G>A , CM000670.2:g.132572107G>A	GRCh38
NC_000008.10:g.133584355G>A , CM000670.1:g.133584355G>A	GRCh37
NC_000008.9:g.133653537G>A	NCBI36
NG_033068.1:g.108509C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.*199C>T MANE Select	ENSP00000484634.1:n.*199C>T
ENST00000519595.5:c.*199C>T	ENSP00000429791.1:n.*199C>T
ENST00000618342.1:c.1600C>T	ENSP00000484802.1:n.1600C>T
ENST00000620350.4:c.*199C>T	ENSP00000484634.1:n.*199C>T
NM_012472.4:c.*199C>T	NP_036604.2:n.*199C>T
NR_073525.1:n.1824C>T
XM_006716538.2:c.*199C>T	XP_006716601.2:n.*199C>T
XM_011516950.1:c.*199C>T	XP_011515252.1:n.*199C>T
XM_011516952.1:c.*199C>T	XP_011515254.1:n.*199C>T
XM_011516953.1:c.*199C>T	XP_011515255.1:n.*199C>T
XM_011516954.1:c.*199C>T	XP_011515256.1:n.*199C>T
XR_428377.2:n.1852C>T
NM_001321961.1:c.*199C>T	NP_001308890.1:n.*199C>T
NM_001321962.1:c.*199C>T	NP_001308891.1:n.*199C>T
NM_001321963.1:c.*199C>T	NP_001308892.1:n.*199C>T
NM_001321964.1:c.*199C>T	NP_001308893.1:n.*199C>T
NM_001321965.1:c.*199C>T	NP_001308894.1:n.*199C>T
NM_001321966.1:c.*199C>T	NP_001308895.1:n.*199C>T
NM_012472.5:c.*199C>T	NP_036604.2:n.*199C>T
NR_073525.2:n.1824C>T
NR_135905.1:n.1813C>T
NR_135906.1:n.1254C>T
NR_135907.1:n.1500C>T
NR_135908.1:n.1194C>T
NR_135909.1:n.1618C>T
NR_135910.1:n.1925C>T
NR_135911.1:n.2004C>T
NR_135912.1:n.2563C>T
NR_135913.1:n.2250C>T
XM_006716538.3:c.*199C>T	XP_006716601.2:n.*199C>T
XM_011516950.2:c.*199C>T	XP_011515252.1:n.*199C>T
XM_017013296.1:c.*199C>T	XP_016868785.1:n.*199C>T
XM_017013297.1:c.*199C>T	XP_016868786.1:n.*199C>T
XM_017013298.1:c.*199C>T	XP_016868787.1:n.*199C>T
NM_012472.6:c.*199C>T MANE Select	NP_036604.2:n.*199C>T
NM_001321961.2:c.*199C>T	NP_001308890.1:n.*199C>T
NM_001321962.2:c.*199C>T	NP_001308891.1:n.*199C>T
NM_001321963.2:c.*199C>T	NP_001308892.1:n.*199C>T
NM_001321964.2:c.*199C>T	NP_001308893.1:n.*199C>T
NM_001321965.2:c.*199C>T	NP_001308894.1:n.*199C>T
NM_001321966.2:c.*199C>T	NP_001308895.1:n.*199C>T
NR_073525.3:n.1752C>T
NR_135905.2:n.1741C>T
NR_135906.2:n.1182C>T
NR_135907.2:n.1428C>T
NR_135908.2:n.1122C>T
NR_135909.2:n.1638C>T
NR_135910.2:n.1988C>T
NR_135911.2:n.2108C>T
NR_135912.2:n.2667C>T
NR_135913.2:n.2354C>T