Canonical Allele Identifier: CA372291898

Gene: DNAAF11

Linked Data

• dbSNP Id: rs1288664161
• gnomAD v2: 8-133584660-A-T
• gnomAD v4: 8-132572412-A-T
• MyVariant Identifiers: chr8:g.133584660A>T (hg19) ; chr8:g.132572412A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572412A>T , CM000670.2:g.132572412A>T	GRCh38
NC_000008.10:g.133584660A>T , CM000670.1:g.133584660A>T	GRCh37
NC_000008.9:g.133653842A>T	NCBI36
NG_033068.1:g.108204T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1295T>A MANE Select	ENSP00000484634.1:p.Val432Asp
ENST00000250173.5:c.*159T>A	ENSP00000250173.2:n.*159T>A
ENST00000518642.5:c.*159T>A	ENSP00000428610.1:n.*159T>A
ENST00000519595.5:c.1295T>A	ENSP00000429791.1:p.Val432Asp
ENST00000522789.5:c.515T>A	ENSP00000428015.1:p.Val172Asp
ENST00000618342.1:c.1295T>A	ENSP00000484802.1:p.Val432Asp
ENST00000620350.4:c.1295T>A	ENSP00000484634.1:p.Val432Asp
NM_012472.4:c.1295T>A	NP_036604.2:p.Val432Asp
NR_073525.1:n.1519T>A
XM_006716538.2:c.1313T>A	XP_006716601.2:p.Val438Asp
XM_011516950.1:c.1253T>A	XP_011515252.1:p.Val418Asp
XM_011516952.1:c.1049T>A	XP_011515254.1:p.Val350Asp
XM_011516953.1:c.935T>A	XP_011515255.1:p.Val312Asp
XM_011516954.1:c.935T>A	XP_011515256.1:p.Val312Asp
XR_428377.2:n.1547T>A
NM_001321961.1:c.1235T>A	NP_001308890.1:p.Val412Asp
NM_001321962.1:c.1049T>A	NP_001308891.1:p.Val350Asp
NM_001321963.1:c.935T>A	NP_001308892.1:p.Val312Asp
NM_001321964.1:c.935T>A	NP_001308893.1:p.Val312Asp
NM_001321965.1:c.935T>A	NP_001308894.1:p.Val312Asp
NM_001321966.1:c.875T>A	NP_001308895.1:p.Val292Asp
NM_012472.5:c.1295T>A	NP_036604.2:p.Val432Asp
NR_073525.2:n.1519T>A
NR_135905.1:n.1508T>A
NR_135906.1:n.949T>A
NR_135907.1:n.1195T>A
NR_135908.1:n.889T>A
NR_135909.1:n.1313T>A
NR_135910.1:n.1620T>A
NR_135911.1:n.1699T>A
NR_135912.1:n.2258T>A
NR_135913.1:n.1945T>A
XM_006716538.3:c.1313T>A	XP_006716601.2:p.Val438Asp
XM_011516950.2:c.1253T>A	XP_011515252.1:p.Val418Asp
XM_017013296.1:c.1193T>A	XP_016868785.1:p.Val398Asp
XM_017013297.1:c.935T>A	XP_016868786.1:p.Val312Asp
XM_017013298.1:c.935T>A	XP_016868787.1:p.Val312Asp
NM_012472.6:c.1295T>A MANE Select	NP_036604.2:p.Val432Asp
NM_001321961.2:c.1235T>A	NP_001308890.1:p.Val412Asp
NM_001321962.2:c.1049T>A	NP_001308891.1:p.Val350Asp
NM_001321963.2:c.935T>A	NP_001308892.1:p.Val312Asp
NM_001321964.2:c.935T>A	NP_001308893.1:p.Val312Asp
NM_001321965.2:c.935T>A	NP_001308894.1:p.Val312Asp
NM_001321966.2:c.875T>A	NP_001308895.1:p.Val292Asp
NR_073525.3:n.1447T>A
NR_135905.2:n.1436T>A
NR_135906.2:n.877T>A
NR_135907.2:n.1123T>A
NR_135908.2:n.817T>A
NR_135909.2:n.1333T>A
NR_135910.2:n.1683T>A
NR_135911.2:n.1803T>A
NR_135912.2:n.2362T>A
NR_135913.2:n.2049T>A