Canonical Allele Identifier: CA321441
Community Standard Title: NM_145691.4(ATPAF2):c.40C>G (p.Arg14Gly)
Gene: ATPAF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18038974G>C , CM000679.2:g.18038974G>C GRCh38
NC_000017.10:g.17942288G>C , CM000679.1:g.17942288G>C GRCh37
NC_000017.9:g.17883013G>C NCBI36
NG_012824.1:g.5193C>G

Transcript Alleles

HGVS Amino-acid Change
NM_145691.4:c.40C>G MANE Select NP_663729.1:p.Arg14Gly
ENST00000474627.8:c.40C>G MANE Select ENSP00000417190.2:p.Arg14Gly
NM_145691.3:c.40C>G NP_663729.1:p.Arg14Gly
ENST00000444058.1:c.40C>G ENSP00000397198.1:p.Arg14Gly
ENST00000462733.5:c.40C>G ENSP00000463920.1:p.Arg14Gly
ENST00000474627.7:c.40C>G ENSP00000417190.2:p.Arg14Gly
ENST00000497871.1:n.228C>G
ENST00000577586.5:n.191C>G
ENST00000584205.5:c.40C>G ENSP00000462899.1:p.Arg14Gly
ENST00000585101.5:c.40C>G ENSP00000463861.1:p.Arg14Gly
XM_005256848.2:c.40C>G XP_005256905.1:p.Arg14Gly
XM_005256848.4:c.40C>G XP_005256905.1:p.Arg14Gly
XM_011524062.1:c.40C>G XP_011522364.1:p.Arg14Gly
XM_011524063.1:c.40C>G XP_011522365.1:p.Arg14Gly
XM_011524064.1:c.-115C>G XP_011522366.1:n.-115C>G
XM_011524065.1:c.40C>G XP_011522367.1:p.Arg14Gly
XM_011524065.2:c.40C>G XP_011522367.1:p.Arg14Gly
XM_017025302.1:c.-115C>G XP_016880791.1:n.-115C>G
XM_017025303.1:c.-115C>G XP_016880792.1:n.-115C>G
XR_001752677.2:n.195C>G
XR_934116.1:n.196C>G