Canonical Allele Identifier: CA2688630947

Gene: DNAAF11

Linked Data

• gnomAD v4: 8-132572190-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572190G>A , CM000670.2:g.132572190G>A	GRCh38
NC_000008.10:g.133584438G>A , CM000670.1:g.133584438G>A	GRCh37
NC_000008.9:g.133653620G>A	NCBI36
NG_033068.1:g.108426C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.*116C>T MANE Select	ENSP00000484634.1:n.*116C>T
ENST00000519595.5:c.*116C>T	ENSP00000429791.1:n.*116C>T
ENST00000618342.1:c.1517C>T	ENSP00000484802.1:n.1517C>T
ENST00000620350.4:c.*116C>T	ENSP00000484634.1:n.*116C>T
NM_012472.4:c.*116C>T	NP_036604.2:n.*116C>T
NR_073525.1:n.1741C>T
XM_006716538.2:c.*116C>T	XP_006716601.2:n.*116C>T
XM_011516950.1:c.*116C>T	XP_011515252.1:n.*116C>T
XM_011516952.1:c.*116C>T	XP_011515254.1:n.*116C>T
XM_011516953.1:c.*116C>T	XP_011515255.1:n.*116C>T
XM_011516954.1:c.*116C>T	XP_011515256.1:n.*116C>T
XR_428377.2:n.1769C>T
NM_001321961.1:c.*116C>T	NP_001308890.1:n.*116C>T
NM_001321962.1:c.*116C>T	NP_001308891.1:n.*116C>T
NM_001321963.1:c.*116C>T	NP_001308892.1:n.*116C>T
NM_001321964.1:c.*116C>T	NP_001308893.1:n.*116C>T
NM_001321965.1:c.*116C>T	NP_001308894.1:n.*116C>T
NM_001321966.1:c.*116C>T	NP_001308895.1:n.*116C>T
NM_012472.5:c.*116C>T	NP_036604.2:n.*116C>T
NR_073525.2:n.1741C>T
NR_135905.1:n.1730C>T
NR_135906.1:n.1171C>T
NR_135907.1:n.1417C>T
NR_135908.1:n.1111C>T
NR_135909.1:n.1535C>T
NR_135910.1:n.1842C>T
NR_135911.1:n.1921C>T
NR_135912.1:n.2480C>T
NR_135913.1:n.2167C>T
XM_006716538.3:c.*116C>T	XP_006716601.2:n.*116C>T
XM_011516950.2:c.*116C>T	XP_011515252.1:n.*116C>T
XM_017013296.1:c.*116C>T	XP_016868785.1:n.*116C>T
XM_017013297.1:c.*116C>T	XP_016868786.1:n.*116C>T
XM_017013298.1:c.*116C>T	XP_016868787.1:n.*116C>T
NM_012472.6:c.*116C>T MANE Select	NP_036604.2:n.*116C>T
NM_001321961.2:c.*116C>T	NP_001308890.1:n.*116C>T
NM_001321962.2:c.*116C>T	NP_001308891.1:n.*116C>T
NM_001321963.2:c.*116C>T	NP_001308892.1:n.*116C>T
NM_001321964.2:c.*116C>T	NP_001308893.1:n.*116C>T
NM_001321965.2:c.*116C>T	NP_001308894.1:n.*116C>T
NM_001321966.2:c.*116C>T	NP_001308895.1:n.*116C>T
NR_073525.3:n.1669C>T
NR_135905.2:n.1658C>T
NR_135906.2:n.1099C>T
NR_135907.2:n.1345C>T
NR_135908.2:n.1039C>T
NR_135909.2:n.1555C>T
NR_135910.2:n.1905C>T
NR_135911.2:n.2025C>T
NR_135912.2:n.2584C>T
NR_135913.2:n.2271C>T