Canonical Allele Identifier: CA585279353

Gene: DNAAF11

Linked Data

• dbSNP Id: rs754849896
• gnomAD v2: 8-133584530-C-G
• gnomAD v4: 8-132572282-C-G
• MyVariant Identifiers: chr8:g.133584530C>G (hg19) ; chr8:g.132572282C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572282C>G , CM000670.2:g.132572282C>G	GRCh38
NC_000008.10:g.133584530C>G , CM000670.1:g.133584530C>G	GRCh37
NC_000008.9:g.133653712C>G	NCBI36
NG_033068.1:g.108334G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.*24G>C MANE Select	ENSP00000484634.1:n.*24G>C
ENST00000250173.5:c.*289G>C	ENSP00000250173.2:n.*289G>C
ENST00000518642.5:c.*289G>C	ENSP00000428610.1:n.*289G>C
ENST00000519595.5:c.*24G>C	ENSP00000429791.1:n.*24G>C
ENST00000522789.5:c.645G>C	ENSP00000428015.1:n.645G>C
ENST00000618342.1:c.1425G>C	ENSP00000484802.1:n.1425G>C
ENST00000620350.4:c.*24G>C	ENSP00000484634.1:n.*24G>C
NM_012472.4:c.*24G>C	NP_036604.2:n.*24G>C
NR_073525.1:n.1649G>C
XM_006716538.2:c.*24G>C	XP_006716601.2:n.*24G>C
XM_011516950.1:c.*24G>C	XP_011515252.1:n.*24G>C
XM_011516952.1:c.*24G>C	XP_011515254.1:n.*24G>C
XM_011516953.1:c.*24G>C	XP_011515255.1:n.*24G>C
XM_011516954.1:c.*24G>C	XP_011515256.1:n.*24G>C
XR_428377.2:n.1677G>C
NM_001321961.1:c.*24G>C	NP_001308890.1:n.*24G>C
NM_001321962.1:c.*24G>C	NP_001308891.1:n.*24G>C
NM_001321963.1:c.*24G>C	NP_001308892.1:n.*24G>C
NM_001321964.1:c.*24G>C	NP_001308893.1:n.*24G>C
NM_001321965.1:c.*24G>C	NP_001308894.1:n.*24G>C
NM_001321966.1:c.*24G>C	NP_001308895.1:n.*24G>C
NM_012472.5:c.*24G>C	NP_036604.2:n.*24G>C
NR_073525.2:n.1649G>C
NR_135905.1:n.1638G>C
NR_135906.1:n.1079G>C
NR_135907.1:n.1325G>C
NR_135908.1:n.1019G>C
NR_135909.1:n.1443G>C
NR_135910.1:n.1750G>C
NR_135911.1:n.1829G>C
NR_135912.1:n.2388G>C
NR_135913.1:n.2075G>C
XM_006716538.3:c.*24G>C	XP_006716601.2:n.*24G>C
XM_011516950.2:c.*24G>C	XP_011515252.1:n.*24G>C
XM_017013296.1:c.*24G>C	XP_016868785.1:n.*24G>C
XM_017013297.1:c.*24G>C	XP_016868786.1:n.*24G>C
XM_017013298.1:c.*24G>C	XP_016868787.1:n.*24G>C
NM_012472.6:c.*24G>C MANE Select	NP_036604.2:n.*24G>C
NM_001321961.2:c.*24G>C	NP_001308890.1:n.*24G>C
NM_001321962.2:c.*24G>C	NP_001308891.1:n.*24G>C
NM_001321963.2:c.*24G>C	NP_001308892.1:n.*24G>C
NM_001321964.2:c.*24G>C	NP_001308893.1:n.*24G>C
NM_001321965.2:c.*24G>C	NP_001308894.1:n.*24G>C
NM_001321966.2:c.*24G>C	NP_001308895.1:n.*24G>C
NR_073525.3:n.1577G>C
NR_135905.2:n.1566G>C
NR_135906.2:n.1007G>C
NR_135907.2:n.1253G>C
NR_135908.2:n.947G>C
NR_135909.2:n.1463G>C
NR_135910.2:n.1813G>C
NR_135911.2:n.1933G>C
NR_135912.2:n.2492G>C
NR_135913.2:n.2179G>C