Canonical Allele Identifier: CA5642207
Community Standard Title: NM_078470.6(COX15):c.686C>A (p.Ser229Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99724020G>T , CM000672.2:g.99724020G>T GRCh38
NC_000010.10:g.101483777G>T , CM000672.1:g.101483777G>T GRCh37
NC_000010.9:g.101473767G>T NCBI36
NG_008986.1:g.13647C>A , LRG_406:g.13647C>A

Transcript Alleles

HGVS Amino-acid Change
NM_078470.6:c.686C>A (COX15) MANE Select NP_510870.1:p.Ser229Ter
ENST00000016171.6:c.686C>A (COX15) MANE Select ENSP00000016171.6:p.Ser229Ter
NM_001320974.1:c.686C>A (COX15) NP_001307903.1:p.Ser229Ter
NM_001320974.2:c.686C>A (COX15) NP_001307903.1:p.Ser229Ter
NM_001320975.1:c.686C>A (COX15) NP_001307904.1:p.Ser229Ter
NM_001320975.2:c.686C>A (COX15) NP_001307904.1:p.Ser229Ter
NM_001320976.1:c.149C>A (COX15) NP_001307905.1:p.Ser50Ter
NM_001320976.2:c.149C>A (COX15) NP_001307905.1:p.Ser50Ter
NM_001372024.1:c.686C>A (COX15) NP_001358953.1:p.Ser229Ter
NM_001372025.1:c.686C>A (COX15) NP_001358954.1:p.Ser229Ter
NM_001372026.1:c.686C>A (COX15) NP_001358955.1:p.Ser229Ter
NM_001372027.1:c.686C>A (COX15) NP_001358956.1:p.Ser229Ter
NM_001372028.1:c.686C>A (COX15) NP_001358957.1:p.Ser229Ter
NM_004376.5:c.686C>A , LRG_406t2:c.686C>A (COX15) NP_004367.2:p.Ser229Ter
NM_004376.6:c.686C>A (COX15) NP_004367.2:p.Ser229Ter
NM_004376.7:c.686C>A (COX15) NP_004367.2:p.Ser229Ter
NM_078470.4:c.686C>A , LRG_406t1:c.686C>A (COX15) NP_510870.1:p.Ser229Ter
NM_078470.5:c.686C>A (COX15) NP_510870.1:p.Ser229Ter
NR_164009.1:n.681C>A (COX15)
ENST00000016171.5:c.686C>A (COX15) ENSP00000016171.5:p.Ser229Ter
ENST00000370483.9:c.686C>A (COX15) ENSP00000359514.5:p.Ser229Ter
ENST00000493385.5:n.309+910G>T (CUTC)
ENST00000649102.1:c.*45C>A ENSP00000497114.1:n.*45C>A
XM_005269539.3:c.686C>A (COX15) XP_005269596.1:p.Ser229Ter
XM_006717633.2:c.686C>A (COX15) XP_006717696.1:p.Ser229Ter
XM_006717634.2:c.686C>A (COX15) XP_006717697.1:p.Ser229Ter
XM_006717634.3:c.686C>A (COX15) XP_006717697.1:p.Ser229Ter
XM_011539298.1:c.686C>A (COX15) XP_011537600.1:p.Ser229Ter
XM_011539298.2:c.686C>A (COX15) XP_011537600.1:p.Ser229Ter