Canonical Allele Identifier: CA9215305
Community Standard Title: NM_001611.5(ACP5):c.839G>A (p.Arg280His)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11575149C>T , CM000681.2:g.11575149C>T GRCh38
NC_000019.9:g.11685964C>T , CM000681.1:g.11685964C>T GRCh37
NC_000019.8:g.11546964C>T NCBI36
NG_028127.1:g.8838G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001611.5:c.839G>A (ACP5) MANE Select NP_001602.1:p.Arg280His
ENST00000648477.1:c.839G>A (ACP5) MANE Select ENSP00000496973.1:p.Arg280His
NM_001111034.1:c.839G>A (ACP5) NP_001104504.1:p.Arg280His
NM_001111034.2:c.839G>A (ACP5) NP_001104504.1:p.Arg280His
NM_001111034.3:c.839G>A (ACP5) NP_001104504.1:p.Arg280His
NM_001111035.1:c.839G>A (ACP5) NP_001104505.1:p.Arg280His
NM_001111035.2:c.839G>A (ACP5) NP_001104505.1:p.Arg280His
NM_001111035.3:c.839G>A (ACP5) NP_001104505.1:p.Arg280His
NM_001111036.1:c.839G>A (ACP5) NP_001104506.1:p.Arg280His
NM_001111036.2:c.839G>A (ACP5) NP_001104506.1:p.Arg280His
NM_001111036.3:c.839G>A (ACP5) NP_001104506.1:p.Arg280His
NM_001322023.1:c.839G>A (ACP5) NP_001308952.1:p.Arg280His
NM_001322023.2:c.839G>A (ACP5) NP_001308952.1:p.Arg280His
NM_001611.3:c.839G>A (ACP5) NP_001602.1:p.Arg280His
ENST00000218758.10:c.839G>A (ACP5) ENSP00000218758.4:p.Arg280His
ENST00000218758.9:c.839G>A (ACP5) ENSP00000218758.4:p.Arg280His
ENST00000412435.6:c.839G>A (ACP5) ENSP00000392374.1:p.Arg280His
ENST00000412435.7:c.839G>A (ACP5) ENSP00000392374.1:p.Arg280His
ENST00000433365.2:c.839G>A (ACP5) ENSP00000413456.1:p.Arg280His
ENST00000585493.5:c.-197-101C>T (ZNF627) ENSP00000464997.1:n.-197-101C>T
ENST00000588524.6:n.1472G>A (ACP5)
ENST00000588651.1:n.428-101C>T (ZNF627)
ENST00000589792.6:c.839G>A (ACP5) ENSP00000468685.2:p.Arg280His
ENST00000590420.1:c.112G>A (ACP5) ENSP00000468509.1:p.Ala38Thr
ENST00000590832.2:c.839G>A (ACP5) ENSP00000465127.2:p.Arg280His
ENST00000591319.2:c.839G>A (ACP5) ENSP00000464831.2:p.Arg280His
ENST00000592659.2:c.839G>A (ACP5) ENSP00000465498.2:p.Arg280His
ENST00000592828.5:c.839G>A (ACP5) ENSP00000468767.1:p.Arg280His
ENST00000592828.7:c.839G>A (ACP5) ENSP00000468767.3:p.Arg280His
ENST00000593279.5:n.416-101C>T (ZNF627)
ENST00000649386.2:c.839G>A (ACP5) ENSP00000497140.2:p.Arg280His
ENST00000695791.1:c.839G>A (ACP5) ENSP00000512173.1:p.Arg280His
ENST00000695809.1:c.836G>A (ACP5) ENSP00000512189.1:p.Arg279His
ENST00000695810.1:c.761G>A (ACP5) ENSP00000512190.1:p.Arg254His
ENST00000695811.1:c.839G>A (ACP5) ENSP00000512191.1:p.Arg280His
ENST00000695812.1:n.1457G>A (ACP5)
ENST00000695813.1:c.836G>A (ACP5) ENSP00000512192.1:p.Arg279His
ENST00000695814.1:c.740G>A (ACP5) ENSP00000512193.1:p.Arg247His
ENST00000695815.1:c.836G>A (ACP5) ENSP00000512194.1:p.Arg279His
ENST00000695816.1:n.1394G>A (ACP5)
ENST00000695817.1:c.836G>A (ACP5) ENSP00000512195.1:p.Arg279His
ENST00000695818.1:c.*342G>A (ACP5) ENSP00000512196.1:n.*342G>A
ENST00000695819.1:n.1344G>A (ACP5)
ENST00000695820.1:c.761G>A (ACP5) ENSP00000512198.1:p.Arg254His
ENST00000695821.1:c.761G>A (ACP5) ENSP00000512199.1:p.Arg254His
ENST00000695838.1:n.2815G>A (ACP5)
XM_005259938.1:c.839G>A (ACP5) XP_005259995.1:p.Arg280His
XM_005259939.3:c.839G>A (ACP5) XP_005259996.1:p.Arg280His
XM_011528069.1:c.839G>A (ACP5) XP_011526371.1:p.Arg280His
XM_011528069.2:c.839G>A (ACP5) XP_011526371.1:p.Arg280His