Canonical Allele Identifier: CA10639065
Community Standard Title: NM_145691.4(ATPAF2):c.*165C>T
Gene: ATPAF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18018384G>A , CM000679.2:g.18018384G>A GRCh38
NC_000017.10:g.17921698G>A , CM000679.1:g.17921698G>A GRCh37
NC_000017.9:g.17862423G>A NCBI36
NG_012824.1:g.25783C>T

Transcript Alleles

HGVS Amino-acid Change
NM_145691.4:c.*165C>T MANE Select NP_663729.1:n.*165C>T
ENST00000474627.8:c.*165C>T MANE Select ENSP00000417190.2:n.*165C>T
NM_145691.3:c.*165C>T NP_663729.1:n.*165C>T
ENST00000462733.5:c.*150-2124C>T ENSP00000463920.1:n.*150-2124C>T
ENST00000467560.5:n.445C>T
ENST00000474627.7:c.*165C>T ENSP00000417190.2:n.*165C>T
ENST00000496852.5:n.1540C>T
ENST00000581698.1:c.351C>T
ENST00000584205.5:c.*33+6240C>T ENSP00000462899.1:n.*33+6240C>T
ENST00000585101.5:c.*34-2124C>T ENSP00000463861.1:n.*34-2124C>T
XM_011524062.1:c.732+2739C>T XP_011522364.1:n.732+2739C>T
XM_011524063.1:c.732+2739C>T XP_011522365.1:n.732+2739C>T
XM_011524064.1:c.432+2739C>T XP_011522366.1:n.432+2739C>T
XM_011524065.1:c.733-2124C>T XP_011522367.1:n.733-2124C>T
XM_011524065.2:c.733-2124C>T XP_011522367.1:n.733-2124C>T
XM_011524066.1:c.195+2739C>T XP_011522368.1:n.195+2739C>T
XM_017025302.1:c.*165C>T XP_016880791.1:n.*165C>T
XM_017025303.1:c.433-2124C>T XP_016880792.1:n.433-2124C>T
XR_001752677.2:n.1432C>T