Canonical Allele Identifier: CA372291830

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584628G>C (hg19) ; chr8:g.132572380G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572380G>C , CM000670.2:g.132572380G>C	GRCh38
NC_000008.10:g.133584628G>C , CM000670.1:g.133584628G>C	GRCh37
NC_000008.9:g.133653810G>C	NCBI36
NG_033068.1:g.108236C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1327C>G MANE Select	ENSP00000484634.1:p.Pro443Ala
ENST00000250173.5:c.*191C>G	ENSP00000250173.2:n.*191C>G
ENST00000518642.5:c.*191C>G	ENSP00000428610.1:n.*191C>G
ENST00000519595.5:c.1327C>G	ENSP00000429791.1:p.Pro443Ala
ENST00000522789.5:c.547C>G	ENSP00000428015.1:p.Pro183Ala
ENST00000618342.1:c.1327C>G	ENSP00000484802.1:p.Pro443Ala
ENST00000620350.4:c.1327C>G	ENSP00000484634.1:p.Pro443Ala
NM_012472.4:c.1327C>G	NP_036604.2:p.Pro443Ala
NR_073525.1:n.1551C>G
XM_006716538.2:c.1345C>G	XP_006716601.2:p.Pro449Ala
XM_011516950.1:c.1285C>G	XP_011515252.1:p.Pro429Ala
XM_011516952.1:c.1081C>G	XP_011515254.1:p.Pro361Ala
XM_011516953.1:c.967C>G	XP_011515255.1:p.Pro323Ala
XM_011516954.1:c.967C>G	XP_011515256.1:p.Pro323Ala
XR_428377.2:n.1579C>G
NM_001321961.1:c.1267C>G	NP_001308890.1:p.Pro423Ala
NM_001321962.1:c.1081C>G	NP_001308891.1:p.Pro361Ala
NM_001321963.1:c.967C>G	NP_001308892.1:p.Pro323Ala
NM_001321964.1:c.967C>G	NP_001308893.1:p.Pro323Ala
NM_001321965.1:c.967C>G	NP_001308894.1:p.Pro323Ala
NM_001321966.1:c.907C>G	NP_001308895.1:p.Pro303Ala
NM_012472.5:c.1327C>G	NP_036604.2:p.Pro443Ala
NR_073525.2:n.1551C>G
NR_135905.1:n.1540C>G
NR_135906.1:n.981C>G
NR_135907.1:n.1227C>G
NR_135908.1:n.921C>G
NR_135909.1:n.1345C>G
NR_135910.1:n.1652C>G
NR_135911.1:n.1731C>G
NR_135912.1:n.2290C>G
NR_135913.1:n.1977C>G
XM_006716538.3:c.1345C>G	XP_006716601.2:p.Pro449Ala
XM_011516950.2:c.1285C>G	XP_011515252.1:p.Pro429Ala
XM_017013296.1:c.1225C>G	XP_016868785.1:p.Pro409Ala
XM_017013297.1:c.967C>G	XP_016868786.1:p.Pro323Ala
XM_017013298.1:c.967C>G	XP_016868787.1:p.Pro323Ala
NM_012472.6:c.1327C>G MANE Select	NP_036604.2:p.Pro443Ala
NM_001321961.2:c.1267C>G	NP_001308890.1:p.Pro423Ala
NM_001321962.2:c.1081C>G	NP_001308891.1:p.Pro361Ala
NM_001321963.2:c.967C>G	NP_001308892.1:p.Pro323Ala
NM_001321964.2:c.967C>G	NP_001308893.1:p.Pro323Ala
NM_001321965.2:c.967C>G	NP_001308894.1:p.Pro323Ala
NM_001321966.2:c.907C>G	NP_001308895.1:p.Pro303Ala
NR_073525.3:n.1479C>G
NR_135905.2:n.1468C>G
NR_135906.2:n.909C>G
NR_135907.2:n.1155C>G
NR_135908.2:n.849C>G
NR_135909.2:n.1365C>G
NR_135910.2:n.1715C>G
NR_135911.2:n.1835C>G
NR_135912.2:n.2394C>G
NR_135913.2:n.2081C>G