Canonical Allele Identifier: CA13985552
Community Standard Title: NM_001370595.2(COA8):c.386-5854C>T

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.103581420C>T , CM000676.2:g.103581420C>T GRCh38
NC_000014.8:g.104047757C>T , CM000676.1:g.104047757C>T GRCh37
NC_000014.7:g.103117510C>T NCBI36
NG_041786.1:g.23464C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001370595.2:c.386-5854C>T (COA8) MANE Select NP_001357524.1:n.386-5854C>T
ENST00000409074.8:c.386-5854C>T (COA8) MANE Select ENSP00000386485.3:n.386-5854C>T
NM_001302652.1:c.425-5854C>T (COA8) NP_001289581.1:n.425-5854C>T
NM_001302652.2:c.386-5854C>T (COA8) NP_001289581.2:n.386-5854C>T
NM_001302653.1:c.425-149C>T (COA8) NP_001289582.1:n.425-149C>T
NM_001302653.2:c.386-149C>T (COA8) NP_001289582.2:n.386-149C>T
NM_032374.4:c.425-5854C>T (COA8) NP_115750.2:n.425-5854C>T
NR_126431.1:n.596-5854C>T (COA8)
NR_126431.2:n.593-5854C>T (COA8)
NR_126432.1:n.367-5854C>T (COA8)
NR_126432.2:n.364-5854C>T (COA8)
ENST00000409074.6:c.425-5854C>T (COA8) ENSP00000386485.2:n.425-5854C>T
ENST00000440963.1:c.161-5854C>T (COA8) ENSP00000388067.1:n.161-5854C>T
ENST00000440963.2:c.124-5854C>T (COA8) ENSP00000388067.2:n.124-5854C>T
ENST00000458117.5:c.345-5854C>T (COA8)
ENST00000458117.6:c.322-5854C>T (COA8) ENSP00000408525.2:n.322-5854C>T
ENST00000472726.2:c.425-5854C>T ENSP00000439065.1:n.425-5854C>T
ENST00000472726.3:c.386-5854C>T ENSP00000439065.2:n.386-5854C>T
ENST00000473127.5:c.-29-5854C>T (COA8) ENSP00000489380.1:n.-29-5854C>T
ENST00000474271.1:n.130-5854C>T (COA8)
ENST00000476323.5:c.-29-5854C>T (COA8) ENSP00000489047.1:n.-29-5854C>T
ENST00000477116.5:c.-29-5854C>T (COA8) ENSP00000489152.1:n.-29-5854C>T
ENST00000489117.5:c.500-5854C>T (COA8) ENSP00000451788.1:n.500-5854C>T
ENST00000492189.5:c.-29-5854C>T (COA8) ENSP00000489557.1:n.-29-5854C>T
ENST00000554876.5:c.338+1929C>T (COA8) ENSP00000489308.1:n.338+1929C>T
ENST00000555660.5:c.188+1929C>T (COA8)
ENST00000556253.6:c.386-149C>T (COA8) ENSP00000451874.2:n.386-149C>T
ENST00000557172.5:c.-2+19436C>T (KLC1) ENSP00000450786.1:n.-2+19436C>T
ENST00000674165.1:c.425-5854C>T (COA8) ENSP00000501341.1:n.425-5854C>T