Canonical Allele Identifier: CA372292028

Gene: DNAAF11

Linked Data

• dbSNP Id: rs1454377151
• gnomAD v2: 8-133584718-T-C
• gnomAD v4: 8-132572470-T-C
• MyVariant Identifiers: chr8:g.133584718T>C (hg19) ; chr8:g.132572470T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572470T>C , CM000670.2:g.132572470T>C	GRCh38
NC_000008.10:g.133584718T>C , CM000670.1:g.133584718T>C	GRCh37
NC_000008.9:g.133653900T>C	NCBI36
NG_033068.1:g.108146A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000620350.5:c.1237A>G MANE Select	ENSP00000484634.1:p.Met413Val
ENST00000250173.5:c.*101A>G	ENSP00000250173.2:n.*101A>G
ENST00000518642.5:c.*101A>G	ENSP00000428610.1:n.*101A>G
ENST00000519595.5:c.1237A>G	ENSP00000429791.1:p.Met413Val
ENST00000522597.1:n.506A>G
ENST00000522789.5:c.457A>G	ENSP00000428015.1:p.Met153Val
ENST00000618342.1:c.1237A>G	ENSP00000484802.1:p.Met413Val
ENST00000620350.4:c.1237A>G	ENSP00000484634.1:p.Met413Val
NM_012472.4:c.1237A>G	NP_036604.2:p.Met413Val
NR_073525.1:n.1461A>G
XM_006716538.2:c.1255A>G	XP_006716601.2:p.Met419Val
XM_011516950.1:c.1195A>G	XP_011515252.1:p.Met399Val
XM_011516952.1:c.991A>G	XP_011515254.1:p.Met331Val
XM_011516953.1:c.877A>G	XP_011515255.1:p.Met293Val
XM_011516954.1:c.877A>G	XP_011515256.1:p.Met293Val
XR_428377.2:n.1489A>G
NM_001321961.1:c.1177A>G	NP_001308890.1:p.Met393Val
NM_001321962.1:c.991A>G	NP_001308891.1:p.Met331Val
NM_001321963.1:c.877A>G	NP_001308892.1:p.Met293Val
NM_001321964.1:c.877A>G	NP_001308893.1:p.Met293Val
NM_001321965.1:c.877A>G	NP_001308894.1:p.Met293Val
NM_001321966.1:c.817A>G	NP_001308895.1:p.Met273Val
NM_012472.5:c.1237A>G	NP_036604.2:p.Met413Val
NR_073525.2:n.1461A>G
NR_135905.1:n.1450A>G
NR_135906.1:n.891A>G
NR_135907.1:n.1137A>G
NR_135908.1:n.831A>G
NR_135909.1:n.1255A>G
NR_135910.1:n.1562A>G
NR_135911.1:n.1641A>G
NR_135912.1:n.2200A>G
NR_135913.1:n.1887A>G
XM_006716538.3:c.1255A>G	XP_006716601.2:p.Met419Val
XM_011516950.2:c.1195A>G	XP_011515252.1:p.Met399Val
XM_017013296.1:c.1135A>G	XP_016868785.1:p.Met379Val
XM_017013297.1:c.877A>G	XP_016868786.1:p.Met293Val
XM_017013298.1:c.877A>G	XP_016868787.1:p.Met293Val
NM_012472.6:c.1237A>G MANE Select	NP_036604.2:p.Met413Val
NM_001321961.2:c.1177A>G	NP_001308890.1:p.Met393Val
NM_001321962.2:c.991A>G	NP_001308891.1:p.Met331Val
NM_001321963.2:c.877A>G	NP_001308892.1:p.Met293Val
NM_001321964.2:c.877A>G	NP_001308893.1:p.Met293Val
NM_001321965.2:c.877A>G	NP_001308894.1:p.Met293Val
NM_001321966.2:c.817A>G	NP_001308895.1:p.Met273Val
NR_073525.3:n.1389A>G
NR_135905.2:n.1378A>G
NR_135906.2:n.819A>G
NR_135907.2:n.1065A>G
NR_135908.2:n.759A>G
NR_135909.2:n.1275A>G
NR_135910.2:n.1625A>G
NR_135911.2:n.1745A>G
NR_135912.2:n.2304A>G
NR_135913.2:n.1991A>G