Canonical Allele Identifier: CA186268544

Gene: DNAAF11

Linked Data

• dbSNP Id: rs528922455
• gnomAD v3: 8-132572191-C-A
• gnomAD v4: 8-132572191-C-A
• MyVariant Identifiers: chr8:g.133584439C>A (hg19) ; chr8:g.132572191C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572191C>A , CM000670.2:g.132572191C>A	GRCh38
NC_000008.10:g.133584439C>A , CM000670.1:g.133584439C>A	GRCh37
NC_000008.9:g.133653621C>A	NCBI36
NG_033068.1:g.108425G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.*115G>T MANE Select	ENSP00000484634.1:n.*115G>T
ENST00000519595.5:c.*115G>T	ENSP00000429791.1:n.*115G>T
ENST00000618342.1:c.1516G>T	ENSP00000484802.1:n.1516G>T
ENST00000620350.4:c.*115G>T	ENSP00000484634.1:n.*115G>T
NM_012472.4:c.*115G>T	NP_036604.2:n.*115G>T
NR_073525.1:n.1740G>T
XM_006716538.2:c.*115G>T	XP_006716601.2:n.*115G>T
XM_011516950.1:c.*115G>T	XP_011515252.1:n.*115G>T
XM_011516952.1:c.*115G>T	XP_011515254.1:n.*115G>T
XM_011516953.1:c.*115G>T	XP_011515255.1:n.*115G>T
XM_011516954.1:c.*115G>T	XP_011515256.1:n.*115G>T
XR_428377.2:n.1768G>T
NM_001321961.1:c.*115G>T	NP_001308890.1:n.*115G>T
NM_001321962.1:c.*115G>T	NP_001308891.1:n.*115G>T
NM_001321963.1:c.*115G>T	NP_001308892.1:n.*115G>T
NM_001321964.1:c.*115G>T	NP_001308893.1:n.*115G>T
NM_001321965.1:c.*115G>T	NP_001308894.1:n.*115G>T
NM_001321966.1:c.*115G>T	NP_001308895.1:n.*115G>T
NM_012472.5:c.*115G>T	NP_036604.2:n.*115G>T
NR_073525.2:n.1740G>T
NR_135905.1:n.1729G>T
NR_135906.1:n.1170G>T
NR_135907.1:n.1416G>T
NR_135908.1:n.1110G>T
NR_135909.1:n.1534G>T
NR_135910.1:n.1841G>T
NR_135911.1:n.1920G>T
NR_135912.1:n.2479G>T
NR_135913.1:n.2166G>T
XM_006716538.3:c.*115G>T	XP_006716601.2:n.*115G>T
XM_011516950.2:c.*115G>T	XP_011515252.1:n.*115G>T
XM_017013296.1:c.*115G>T	XP_016868785.1:n.*115G>T
XM_017013297.1:c.*115G>T	XP_016868786.1:n.*115G>T
XM_017013298.1:c.*115G>T	XP_016868787.1:n.*115G>T
NM_012472.6:c.*115G>T MANE Select	NP_036604.2:n.*115G>T
NM_001321961.2:c.*115G>T	NP_001308890.1:n.*115G>T
NM_001321962.2:c.*115G>T	NP_001308891.1:n.*115G>T
NM_001321963.2:c.*115G>T	NP_001308892.1:n.*115G>T
NM_001321964.2:c.*115G>T	NP_001308893.1:n.*115G>T
NM_001321965.2:c.*115G>T	NP_001308894.1:n.*115G>T
NM_001321966.2:c.*115G>T	NP_001308895.1:n.*115G>T
NR_073525.3:n.1668G>T
NR_135905.2:n.1657G>T
NR_135906.2:n.1098G>T
NR_135907.2:n.1344G>T
NR_135908.2:n.1038G>T
NR_135909.2:n.1554G>T
NR_135910.2:n.1904G>T
NR_135911.2:n.2024G>T
NR_135912.2:n.2583G>T
NR_135913.2:n.2270G>T