Canonical Allele Identifier: CA372292035

Gene: DNAAF11

Linked Data

• gnomAD v4: 8-132572473-G-T
• MyVariant Identifiers: chr8:g.133584721G>T (hg19) ; chr8:g.132572473G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572473G>T , CM000670.2:g.132572473G>T	GRCh38
NC_000008.10:g.133584721G>T , CM000670.1:g.133584721G>T	GRCh37
NC_000008.9:g.133653903G>T	NCBI36
NG_033068.1:g.108143C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1234C>A MANE Select	ENSP00000484634.1:p.His412Asn
ENST00000250173.5:c.*98C>A	ENSP00000250173.2:n.*98C>A
ENST00000518642.5:c.*98C>A	ENSP00000428610.1:n.*98C>A
ENST00000519595.5:c.1234C>A	ENSP00000429791.1:p.His412Asn
ENST00000522597.1:n.503C>A
ENST00000522789.5:c.454C>A	ENSP00000428015.1:p.His152Asn
ENST00000618342.1:c.1234C>A	ENSP00000484802.1:p.His412Asn
ENST00000620350.4:c.1234C>A	ENSP00000484634.1:p.His412Asn
NM_012472.4:c.1234C>A	NP_036604.2:p.His412Asn
NR_073525.1:n.1458C>A
XM_006716538.2:c.1252C>A	XP_006716601.2:p.His418Asn
XM_011516950.1:c.1192C>A	XP_011515252.1:p.His398Asn
XM_011516952.1:c.988C>A	XP_011515254.1:p.His330Asn
XM_011516953.1:c.874C>A	XP_011515255.1:p.His292Asn
XM_011516954.1:c.874C>A	XP_011515256.1:p.His292Asn
XR_428377.2:n.1486C>A
NM_001321961.1:c.1174C>A	NP_001308890.1:p.His392Asn
NM_001321962.1:c.988C>A	NP_001308891.1:p.His330Asn
NM_001321963.1:c.874C>A	NP_001308892.1:p.His292Asn
NM_001321964.1:c.874C>A	NP_001308893.1:p.His292Asn
NM_001321965.1:c.874C>A	NP_001308894.1:p.His292Asn
NM_001321966.1:c.814C>A	NP_001308895.1:p.His272Asn
NM_012472.5:c.1234C>A	NP_036604.2:p.His412Asn
NR_073525.2:n.1458C>A
NR_135905.1:n.1447C>A
NR_135906.1:n.888C>A
NR_135907.1:n.1134C>A
NR_135908.1:n.828C>A
NR_135909.1:n.1252C>A
NR_135910.1:n.1559C>A
NR_135911.1:n.1638C>A
NR_135912.1:n.2197C>A
NR_135913.1:n.1884C>A
XM_006716538.3:c.1252C>A	XP_006716601.2:p.His418Asn
XM_011516950.2:c.1192C>A	XP_011515252.1:p.His398Asn
XM_017013296.1:c.1132C>A	XP_016868785.1:p.His378Asn
XM_017013297.1:c.874C>A	XP_016868786.1:p.His292Asn
XM_017013298.1:c.874C>A	XP_016868787.1:p.His292Asn
NM_012472.6:c.1234C>A MANE Select	NP_036604.2:p.His412Asn
NM_001321961.2:c.1174C>A	NP_001308890.1:p.His392Asn
NM_001321962.2:c.988C>A	NP_001308891.1:p.His330Asn
NM_001321963.2:c.874C>A	NP_001308892.1:p.His292Asn
NM_001321964.2:c.874C>A	NP_001308893.1:p.His292Asn
NM_001321965.2:c.874C>A	NP_001308894.1:p.His292Asn
NM_001321966.2:c.814C>A	NP_001308895.1:p.His272Asn
NR_073525.3:n.1386C>A
NR_135905.2:n.1375C>A
NR_135906.2:n.816C>A
NR_135907.2:n.1062C>A
NR_135908.2:n.756C>A
NR_135909.2:n.1272C>A
NR_135910.2:n.1622C>A
NR_135911.2:n.1742C>A
NR_135912.2:n.2301C>A
NR_135913.2:n.1988C>A