Canonical Allele Identifier: CA463074139

Gene: DNAAF11

Linked Data

• gnomAD v4: 8-132572453-T-C
• MyVariant Identifiers: chr8:g.133584701T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572453T>C , CM000670.2:g.132572453T>C	GRCh38
NC_000008.10:g.133584701T>C , CM000670.1:g.133584701T>C	GRCh37
NC_000008.9:g.133653883T>C	NCBI36
NG_033068.1:g.108163A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1254A>G MANE Select	ENSP00000484634.1:p.Val418=
ENST00000250173.5:c.*118A>G	ENSP00000250173.2:n.*118A>G
ENST00000518642.5:c.*118A>G	ENSP00000428610.1:n.*118A>G
ENST00000519595.5:c.1254A>G	ENSP00000429791.1:p.Val418=
ENST00000522597.1:n.523A>G
ENST00000522789.5:c.474A>G	ENSP00000428015.1:p.Val158=
ENST00000618342.1:c.1254A>G	ENSP00000484802.1:p.Val418=
ENST00000620350.4:c.1254A>G	ENSP00000484634.1:p.Val418=
NM_012472.4:c.1254A>G	NP_036604.2:p.Val418=
NR_073525.1:n.1478A>G
XM_006716538.2:c.1272A>G	XP_006716601.2:p.Val424=
XM_011516950.1:c.1212A>G	XP_011515252.1:p.Val404=
XM_011516952.1:c.1008A>G	XP_011515254.1:p.Val336=
XM_011516953.1:c.894A>G	XP_011515255.1:p.Val298=
XM_011516954.1:c.894A>G	XP_011515256.1:p.Val298=
XR_428377.2:n.1506A>G
NM_001321961.1:c.1194A>G	NP_001308890.1:p.Val398=
NM_001321962.1:c.1008A>G	NP_001308891.1:p.Val336=
NM_001321963.1:c.894A>G	NP_001308892.1:p.Val298=
NM_001321964.1:c.894A>G	NP_001308893.1:p.Val298=
NM_001321965.1:c.894A>G	NP_001308894.1:p.Val298=
NM_001321966.1:c.834A>G	NP_001308895.1:p.Val278=
NM_012472.5:c.1254A>G	NP_036604.2:p.Val418=
NR_073525.2:n.1478A>G
NR_135905.1:n.1467A>G
NR_135906.1:n.908A>G
NR_135907.1:n.1154A>G
NR_135908.1:n.848A>G
NR_135909.1:n.1272A>G
NR_135910.1:n.1579A>G
NR_135911.1:n.1658A>G
NR_135912.1:n.2217A>G
NR_135913.1:n.1904A>G
XM_006716538.3:c.1272A>G	XP_006716601.2:p.Val424=
XM_011516950.2:c.1212A>G	XP_011515252.1:p.Val404=
XM_017013296.1:c.1152A>G	XP_016868785.1:p.Val384=
XM_017013297.1:c.894A>G	XP_016868786.1:p.Val298=
XM_017013298.1:c.894A>G	XP_016868787.1:p.Val298=
NM_012472.6:c.1254A>G MANE Select	NP_036604.2:p.Val418=
NM_001321961.2:c.1194A>G	NP_001308890.1:p.Val398=
NM_001321962.2:c.1008A>G	NP_001308891.1:p.Val336=
NM_001321963.2:c.894A>G	NP_001308892.1:p.Val298=
NM_001321964.2:c.894A>G	NP_001308893.1:p.Val298=
NM_001321965.2:c.894A>G	NP_001308894.1:p.Val298=
NM_001321966.2:c.834A>G	NP_001308895.1:p.Val278=
NR_073525.3:n.1406A>G
NR_135905.2:n.1395A>G
NR_135906.2:n.836A>G
NR_135907.2:n.1082A>G
NR_135908.2:n.776A>G
NR_135909.2:n.1292A>G
NR_135910.2:n.1642A>G
NR_135911.2:n.1762A>G
NR_135912.2:n.2321A>G
NR_135913.2:n.2008A>G