Canonical Allele Identifier: CA372291789

Gene: DNAAF11

Linked Data

• gnomAD v4: 8-132572359-T-C
• MyVariant Identifiers: chr8:g.133584607T>C (hg19) ; chr8:g.132572359T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572359T>C , CM000670.2:g.132572359T>C	GRCh38
NC_000008.10:g.133584607T>C , CM000670.1:g.133584607T>C	GRCh37
NC_000008.9:g.133653789T>C	NCBI36
NG_033068.1:g.108257A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1348A>G MANE Select	ENSP00000484634.1:p.Ser450Gly
ENST00000250173.5:c.*212A>G	ENSP00000250173.2:n.*212A>G
ENST00000518642.5:c.*212A>G	ENSP00000428610.1:n.*212A>G
ENST00000519595.5:c.1348A>G	ENSP00000429791.1:p.Ser450Gly
ENST00000522789.5:c.568A>G	ENSP00000428015.1:p.Ser190Gly
ENST00000618342.1:c.1348A>G	ENSP00000484802.1:p.Ser450Gly
ENST00000620350.4:c.1348A>G	ENSP00000484634.1:p.Ser450Gly
NM_012472.4:c.1348A>G	NP_036604.2:p.Ser450Gly
NR_073525.1:n.1572A>G
XM_006716538.2:c.1366A>G	XP_006716601.2:p.Ser456Gly
XM_011516950.1:c.1306A>G	XP_011515252.1:p.Ser436Gly
XM_011516952.1:c.1102A>G	XP_011515254.1:p.Ser368Gly
XM_011516953.1:c.988A>G	XP_011515255.1:p.Ser330Gly
XM_011516954.1:c.988A>G	XP_011515256.1:p.Ser330Gly
XR_428377.2:n.1600A>G
NM_001321961.1:c.1288A>G	NP_001308890.1:p.Ser430Gly
NM_001321962.1:c.1102A>G	NP_001308891.1:p.Ser368Gly
NM_001321963.1:c.988A>G	NP_001308892.1:p.Ser330Gly
NM_001321964.1:c.988A>G	NP_001308893.1:p.Ser330Gly
NM_001321965.1:c.988A>G	NP_001308894.1:p.Ser330Gly
NM_001321966.1:c.928A>G	NP_001308895.1:p.Ser310Gly
NM_012472.5:c.1348A>G	NP_036604.2:p.Ser450Gly
NR_073525.2:n.1572A>G
NR_135905.1:n.1561A>G
NR_135906.1:n.1002A>G
NR_135907.1:n.1248A>G
NR_135908.1:n.942A>G
NR_135909.1:n.1366A>G
NR_135910.1:n.1673A>G
NR_135911.1:n.1752A>G
NR_135912.1:n.2311A>G
NR_135913.1:n.1998A>G
XM_006716538.3:c.1366A>G	XP_006716601.2:p.Ser456Gly
XM_011516950.2:c.1306A>G	XP_011515252.1:p.Ser436Gly
XM_017013296.1:c.1246A>G	XP_016868785.1:p.Ser416Gly
XM_017013297.1:c.988A>G	XP_016868786.1:p.Ser330Gly
XM_017013298.1:c.988A>G	XP_016868787.1:p.Ser330Gly
NM_012472.6:c.1348A>G MANE Select	NP_036604.2:p.Ser450Gly
NM_001321961.2:c.1288A>G	NP_001308890.1:p.Ser430Gly
NM_001321962.2:c.1102A>G	NP_001308891.1:p.Ser368Gly
NM_001321963.2:c.988A>G	NP_001308892.1:p.Ser330Gly
NM_001321964.2:c.988A>G	NP_001308893.1:p.Ser330Gly
NM_001321965.2:c.988A>G	NP_001308894.1:p.Ser330Gly
NM_001321966.2:c.928A>G	NP_001308895.1:p.Ser310Gly
NR_073525.3:n.1500A>G
NR_135905.2:n.1489A>G
NR_135906.2:n.930A>G
NR_135907.2:n.1176A>G
NR_135908.2:n.870A>G
NR_135909.2:n.1386A>G
NR_135910.2:n.1736A>G
NR_135911.2:n.1856A>G
NR_135912.2:n.2415A>G
NR_135913.2:n.2102A>G