Canonical Allele Identifier: CA372291829

Gene: DNAAF11

Linked Data

• gnomAD v4: 8-132572379-G-T
• COSMIC: COSM6270992
• MyVariant Identifiers: chr8:g.133584627G>T (hg19) ; chr8:g.132572379G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572379G>T , CM000670.2:g.132572379G>T	GRCh38
NC_000008.10:g.133584627G>T , CM000670.1:g.133584627G>T	GRCh37
NC_000008.9:g.133653809G>T	NCBI36
NG_033068.1:g.108237C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1328C>A MANE Select	ENSP00000484634.1:p.Pro443His
ENST00000250173.5:c.*192C>A	ENSP00000250173.2:n.*192C>A
ENST00000518642.5:c.*192C>A	ENSP00000428610.1:n.*192C>A
ENST00000519595.5:c.1328C>A	ENSP00000429791.1:p.Pro443His
ENST00000522789.5:c.548C>A	ENSP00000428015.1:p.Pro183His
ENST00000618342.1:c.1328C>A	ENSP00000484802.1:p.Pro443His
ENST00000620350.4:c.1328C>A	ENSP00000484634.1:p.Pro443His
NM_012472.4:c.1328C>A	NP_036604.2:p.Pro443His
NR_073525.1:n.1552C>A
XM_006716538.2:c.1346C>A	XP_006716601.2:p.Pro449His
XM_011516950.1:c.1286C>A	XP_011515252.1:p.Pro429His
XM_011516952.1:c.1082C>A	XP_011515254.1:p.Pro361His
XM_011516953.1:c.968C>A	XP_011515255.1:p.Pro323His
XM_011516954.1:c.968C>A	XP_011515256.1:p.Pro323His
XR_428377.2:n.1580C>A
NM_001321961.1:c.1268C>A	NP_001308890.1:p.Pro423His
NM_001321962.1:c.1082C>A	NP_001308891.1:p.Pro361His
NM_001321963.1:c.968C>A	NP_001308892.1:p.Pro323His
NM_001321964.1:c.968C>A	NP_001308893.1:p.Pro323His
NM_001321965.1:c.968C>A	NP_001308894.1:p.Pro323His
NM_001321966.1:c.908C>A	NP_001308895.1:p.Pro303His
NM_012472.5:c.1328C>A	NP_036604.2:p.Pro443His
NR_073525.2:n.1552C>A
NR_135905.1:n.1541C>A
NR_135906.1:n.982C>A
NR_135907.1:n.1228C>A
NR_135908.1:n.922C>A
NR_135909.1:n.1346C>A
NR_135910.1:n.1653C>A
NR_135911.1:n.1732C>A
NR_135912.1:n.2291C>A
NR_135913.1:n.1978C>A
XM_006716538.3:c.1346C>A	XP_006716601.2:p.Pro449His
XM_011516950.2:c.1286C>A	XP_011515252.1:p.Pro429His
XM_017013296.1:c.1226C>A	XP_016868785.1:p.Pro409His
XM_017013297.1:c.968C>A	XP_016868786.1:p.Pro323His
XM_017013298.1:c.968C>A	XP_016868787.1:p.Pro323His
NM_012472.6:c.1328C>A MANE Select	NP_036604.2:p.Pro443His
NM_001321961.2:c.1268C>A	NP_001308890.1:p.Pro423His
NM_001321962.2:c.1082C>A	NP_001308891.1:p.Pro361His
NM_001321963.2:c.968C>A	NP_001308892.1:p.Pro323His
NM_001321964.2:c.968C>A	NP_001308893.1:p.Pro323His
NM_001321965.2:c.968C>A	NP_001308894.1:p.Pro323His
NM_001321966.2:c.908C>A	NP_001308895.1:p.Pro303His
NR_073525.3:n.1480C>A
NR_135905.2:n.1469C>A
NR_135906.2:n.910C>A
NR_135907.2:n.1156C>A
NR_135908.2:n.850C>A
NR_135909.2:n.1366C>A
NR_135910.2:n.1716C>A
NR_135911.2:n.1836C>A
NR_135912.2:n.2395C>A
NR_135913.2:n.2082C>A