Canonical Allele Identifier: CA5642108

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99716419A>C , CM000672.2:g.99716419A>C GRCh38
NC_000010.10:g.101476176A>C , CM000672.1:g.101476176A>C GRCh37
NC_000010.9:g.101466166A>C NCBI36
NG_008986.1:g.21248T>G , LRG_406:g.21248T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000016171.6:c.1030T>G (COX15) MANE Select ENSP00000016171.6:p.Ser344Ala
ENST00000649102.1:c.*389T>G ENSP00000497114.1:n.*389T>G
ENST00000016171.5:c.1030T>G (COX15) ENSP00000016171.5:p.Ser344Ala
ENST00000370483.9:c.1030T>G (COX15) ENSP00000359514.5:p.Ser344Ala
ENST00000493385.5:n.117-6499A>C (CUTC)
ENST00000497381.1:n.228T>G (COX15)
NM_004376.5:c.1030T>G , LRG_406t2:c.1030T>G (COX15) NP_004367.2:p.Ser344Ala
NM_078470.4:c.1030T>G , LRG_406t1:c.1030T>G (COX15) NP_510870.1:p.Ser344Ala
XM_005269539.3:c.1030T>G (COX15) XP_005269596.1:p.Ser344Ala
XM_006717633.2:c.875T>G (COX15) XP_006717696.1:p.Leu292Arg
XM_006717634.2:c.875T>G (COX15) XP_006717697.1:p.Leu292Arg
XM_011539298.1:c.875T>G (COX15) XP_011537600.1:p.Leu292Arg
NM_001320974.1:c.1030T>G (COX15) NP_001307903.1:p.Ser344Ala
NM_001320975.1:c.875T>G (COX15) NP_001307904.1:p.Leu292Arg
NM_001320976.1:c.493T>G (COX15) NP_001307905.1:p.Ser165Ala
NM_004376.6:c.1030T>G (COX15) NP_004367.2:p.Ser344Ala
NM_078470.5:c.1030T>G (COX15) NP_510870.1:p.Ser344Ala
XM_006717634.3:c.875T>G (COX15) XP_006717697.1:p.Leu292Arg
XM_011539298.2:c.875T>G (COX15) XP_011537600.1:p.Leu292Arg
NM_001320974.2:c.1030T>G (COX15) NP_001307903.1:p.Ser344Ala
NM_001320975.2:c.875T>G (COX15) NP_001307904.1:p.Leu292Arg
NM_001320976.2:c.493T>G (COX15) NP_001307905.1:p.Ser165Ala
NM_001372024.1:c.1030T>G (COX15) NP_001358953.1:p.Ser344Ala
NM_001372025.1:c.1048T>G (COX15) NP_001358954.1:p.Ser350Ala
NM_001372026.1:c.1003T>G (COX15) NP_001358955.1:p.Ser335Ala
NM_001372027.1:c.1030T>G (COX15) NP_001358956.1:p.Ser344Ala
NM_001372028.1:c.875T>G (COX15) NP_001358957.1:p.Leu292Arg
NM_004376.7:c.1030T>G (COX15) NP_004367.2:p.Ser344Ala
NM_078470.6:c.1030T>G (COX15) MANE Select NP_510870.1:p.Ser344Ala
NR_164009.1:n.870T>G (COX15)