Canonical Allele Identifier: CA372291816

Gene: DNAAF11

Linked Data

• gnomAD v4: 8-132572373-G-T
• MyVariant Identifiers: chr8:g.133584621G>T (hg19) ; chr8:g.132572373G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572373G>T , CM000670.2:g.132572373G>T	GRCh38
NC_000008.10:g.133584621G>T , CM000670.1:g.133584621G>T	GRCh37
NC_000008.9:g.133653803G>T	NCBI36
NG_033068.1:g.108243C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000620350.5:c.1334C>A MANE Select	ENSP00000484634.1:p.Pro445His
ENST00000250173.5:c.*198C>A	ENSP00000250173.2:n.*198C>A
ENST00000518642.5:c.*198C>A	ENSP00000428610.1:n.*198C>A
ENST00000519595.5:c.1334C>A	ENSP00000429791.1:p.Pro445His
ENST00000522789.5:c.554C>A	ENSP00000428015.1:p.Pro185His
ENST00000618342.1:c.1334C>A	ENSP00000484802.1:p.Pro445His
ENST00000620350.4:c.1334C>A	ENSP00000484634.1:p.Pro445His
NM_012472.4:c.1334C>A	NP_036604.2:p.Pro445His
NR_073525.1:n.1558C>A
XM_006716538.2:c.1352C>A	XP_006716601.2:p.Pro451His
XM_011516950.1:c.1292C>A	XP_011515252.1:p.Pro431His
XM_011516952.1:c.1088C>A	XP_011515254.1:p.Pro363His
XM_011516953.1:c.974C>A	XP_011515255.1:p.Pro325His
XM_011516954.1:c.974C>A	XP_011515256.1:p.Pro325His
XR_428377.2:n.1586C>A
NM_001321961.1:c.1274C>A	NP_001308890.1:p.Pro425His
NM_001321962.1:c.1088C>A	NP_001308891.1:p.Pro363His
NM_001321963.1:c.974C>A	NP_001308892.1:p.Pro325His
NM_001321964.1:c.974C>A	NP_001308893.1:p.Pro325His
NM_001321965.1:c.974C>A	NP_001308894.1:p.Pro325His
NM_001321966.1:c.914C>A	NP_001308895.1:p.Pro305His
NM_012472.5:c.1334C>A	NP_036604.2:p.Pro445His
NR_073525.2:n.1558C>A
NR_135905.1:n.1547C>A
NR_135906.1:n.988C>A
NR_135907.1:n.1234C>A
NR_135908.1:n.928C>A
NR_135909.1:n.1352C>A
NR_135910.1:n.1659C>A
NR_135911.1:n.1738C>A
NR_135912.1:n.2297C>A
NR_135913.1:n.1984C>A
XM_006716538.3:c.1352C>A	XP_006716601.2:p.Pro451His
XM_011516950.2:c.1292C>A	XP_011515252.1:p.Pro431His
XM_017013296.1:c.1232C>A	XP_016868785.1:p.Pro411His
XM_017013297.1:c.974C>A	XP_016868786.1:p.Pro325His
XM_017013298.1:c.974C>A	XP_016868787.1:p.Pro325His
NM_012472.6:c.1334C>A MANE Select	NP_036604.2:p.Pro445His
NM_001321961.2:c.1274C>A	NP_001308890.1:p.Pro425His
NM_001321962.2:c.1088C>A	NP_001308891.1:p.Pro363His
NM_001321963.2:c.974C>A	NP_001308892.1:p.Pro325His
NM_001321964.2:c.974C>A	NP_001308893.1:p.Pro325His
NM_001321965.2:c.974C>A	NP_001308894.1:p.Pro325His
NM_001321966.2:c.914C>A	NP_001308895.1:p.Pro305His
NR_073525.3:n.1486C>A
NR_135905.2:n.1475C>A
NR_135906.2:n.916C>A
NR_135907.2:n.1162C>A
NR_135908.2:n.856C>A
NR_135909.2:n.1372C>A
NR_135910.2:n.1722C>A
NR_135911.2:n.1842C>A
NR_135912.2:n.2401C>A
NR_135913.2:n.2088C>A