Canonical Allele Identifier: CA372292030

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584719G>C (hg19) ; chr8:g.132572471G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572471G>C , CM000670.2:g.132572471G>C	GRCh38
NC_000008.10:g.133584719G>C , CM000670.1:g.133584719G>C	GRCh37
NC_000008.9:g.133653901G>C	NCBI36
NG_033068.1:g.108145C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000620350.5:c.1236C>G MANE Select	ENSP00000484634.1:p.His412Gln
ENST00000250173.5:c.*100C>G	ENSP00000250173.2:n.*100C>G
ENST00000518642.5:c.*100C>G	ENSP00000428610.1:n.*100C>G
ENST00000519595.5:c.1236C>G	ENSP00000429791.1:p.His412Gln
ENST00000522597.1:n.505C>G
ENST00000522789.5:c.456C>G	ENSP00000428015.1:p.His152Gln
ENST00000618342.1:c.1236C>G	ENSP00000484802.1:p.His412Gln
ENST00000620350.4:c.1236C>G	ENSP00000484634.1:p.His412Gln
NM_012472.4:c.1236C>G	NP_036604.2:p.His412Gln
NR_073525.1:n.1460C>G
XM_006716538.2:c.1254C>G	XP_006716601.2:p.His418Gln
XM_011516950.1:c.1194C>G	XP_011515252.1:p.His398Gln
XM_011516952.1:c.990C>G	XP_011515254.1:p.His330Gln
XM_011516953.1:c.876C>G	XP_011515255.1:p.His292Gln
XM_011516954.1:c.876C>G	XP_011515256.1:p.His292Gln
XR_428377.2:n.1488C>G
NM_001321961.1:c.1176C>G	NP_001308890.1:p.His392Gln
NM_001321962.1:c.990C>G	NP_001308891.1:p.His330Gln
NM_001321963.1:c.876C>G	NP_001308892.1:p.His292Gln
NM_001321964.1:c.876C>G	NP_001308893.1:p.His292Gln
NM_001321965.1:c.876C>G	NP_001308894.1:p.His292Gln
NM_001321966.1:c.816C>G	NP_001308895.1:p.His272Gln
NM_012472.5:c.1236C>G	NP_036604.2:p.His412Gln
NR_073525.2:n.1460C>G
NR_135905.1:n.1449C>G
NR_135906.1:n.890C>G
NR_135907.1:n.1136C>G
NR_135908.1:n.830C>G
NR_135909.1:n.1254C>G
NR_135910.1:n.1561C>G
NR_135911.1:n.1640C>G
NR_135912.1:n.2199C>G
NR_135913.1:n.1886C>G
XM_006716538.3:c.1254C>G	XP_006716601.2:p.His418Gln
XM_011516950.2:c.1194C>G	XP_011515252.1:p.His398Gln
XM_017013296.1:c.1134C>G	XP_016868785.1:p.His378Gln
XM_017013297.1:c.876C>G	XP_016868786.1:p.His292Gln
XM_017013298.1:c.876C>G	XP_016868787.1:p.His292Gln
NM_012472.6:c.1236C>G MANE Select	NP_036604.2:p.His412Gln
NM_001321961.2:c.1176C>G	NP_001308890.1:p.His392Gln
NM_001321962.2:c.990C>G	NP_001308891.1:p.His330Gln
NM_001321963.2:c.876C>G	NP_001308892.1:p.His292Gln
NM_001321964.2:c.876C>G	NP_001308893.1:p.His292Gln
NM_001321965.2:c.876C>G	NP_001308894.1:p.His292Gln
NM_001321966.2:c.816C>G	NP_001308895.1:p.His272Gln
NR_073525.3:n.1388C>G
NR_135905.2:n.1377C>G
NR_135906.2:n.818C>G
NR_135907.2:n.1064C>G
NR_135908.2:n.758C>G
NR_135909.2:n.1274C>G
NR_135910.2:n.1624C>G
NR_135911.2:n.1744C>G
NR_135912.2:n.2303C>G
NR_135913.2:n.1990C>G