Canonical Allele Identifier: CA847663458

Gene: DNAAF11

Linked Data

• dbSNP Id: rs1456090911
• gnomAD v4: 8-132572483-A-G
• MyVariant Identifiers: chr8:g.133584731A>G (hg19) ; chr8:g.132572483A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572483A>G , CM000670.2:g.132572483A>G	GRCh38
NC_000008.10:g.133584731A>G , CM000670.1:g.133584731A>G	GRCh37
NC_000008.9:g.133653913A>G	NCBI36
NG_033068.1:g.108133T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1227-3T>C MANE Select	ENSP00000484634.1:n.1227-3T>C
ENST00000250173.5:c.*91-3T>C	ENSP00000250173.2:n.*91-3T>C
ENST00000518642.5:c.*91-3T>C	ENSP00000428610.1:n.*91-3T>C
ENST00000519595.5:c.1227-3T>C	ENSP00000429791.1:n.1227-3T>C
ENST00000522597.1:n.496-3T>C
ENST00000522789.5:c.447-3T>C	ENSP00000428015.1:n.447-3T>C
ENST00000618342.1:c.1227-3T>C	ENSP00000484802.1:n.1227-3T>C
ENST00000620350.4:c.1227-3T>C	ENSP00000484634.1:n.1227-3T>C
NM_012472.4:c.1227-3T>C	NP_036604.2:n.1227-3T>C
NR_073525.1:n.1451-3T>C
XM_006716538.2:c.1245-3T>C	XP_006716601.2:n.1245-3T>C
XM_011516950.1:c.1185-3T>C	XP_011515252.1:n.1185-3T>C
XM_011516952.1:c.981-3T>C	XP_011515254.1:n.981-3T>C
XM_011516953.1:c.867-3T>C	XP_011515255.1:n.867-3T>C
XM_011516954.1:c.867-3T>C	XP_011515256.1:n.867-3T>C
XR_428377.2:n.1479-3T>C
NM_001321961.1:c.1167-3T>C	NP_001308890.1:n.1167-3T>C
NM_001321962.1:c.981-3T>C	NP_001308891.1:n.981-3T>C
NM_001321963.1:c.867-3T>C	NP_001308892.1:n.867-3T>C
NM_001321964.1:c.867-3T>C	NP_001308893.1:n.867-3T>C
NM_001321965.1:c.867-3T>C	NP_001308894.1:n.867-3T>C
NM_001321966.1:c.807-3T>C	NP_001308895.1:n.807-3T>C
NM_012472.5:c.1227-3T>C	NP_036604.2:n.1227-3T>C
NR_073525.2:n.1451-3T>C
NR_135905.1:n.1440-3T>C
NR_135906.1:n.881-3T>C
NR_135907.1:n.1127-3T>C
NR_135908.1:n.821-3T>C
NR_135909.1:n.1245-3T>C
NR_135910.1:n.1552-3T>C
NR_135911.1:n.1631-3T>C
NR_135912.1:n.2190-3T>C
NR_135913.1:n.1877-3T>C
XM_006716538.3:c.1245-3T>C	XP_006716601.2:n.1245-3T>C
XM_011516950.2:c.1185-3T>C	XP_011515252.1:n.1185-3T>C
XM_017013296.1:c.1125-3T>C	XP_016868785.1:n.1125-3T>C
XM_017013297.1:c.867-3T>C	XP_016868786.1:n.867-3T>C
XM_017013298.1:c.867-3T>C	XP_016868787.1:n.867-3T>C
NM_012472.6:c.1227-3T>C MANE Select	NP_036604.2:n.1227-3T>C
NM_001321961.2:c.1167-3T>C	NP_001308890.1:n.1167-3T>C
NM_001321962.2:c.981-3T>C	NP_001308891.1:n.981-3T>C
NM_001321963.2:c.867-3T>C	NP_001308892.1:n.867-3T>C
NM_001321964.2:c.867-3T>C	NP_001308893.1:n.867-3T>C
NM_001321965.2:c.867-3T>C	NP_001308894.1:n.867-3T>C
NM_001321966.2:c.807-3T>C	NP_001308895.1:n.807-3T>C
NR_073525.3:n.1379-3T>C
NR_135905.2:n.1368-3T>C
NR_135906.2:n.809-3T>C
NR_135907.2:n.1055-3T>C
NR_135908.2:n.749-3T>C
NR_135909.2:n.1265-3T>C
NR_135910.2:n.1615-3T>C
NR_135911.2:n.1735-3T>C
NR_135912.2:n.2294-3T>C
NR_135913.2:n.1981-3T>C