Canonical Allele Identifier: CA267203030
Community Standard Title: NM_001370595.2(COA8):c.477-56C>T

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.103590125C>T , CM000676.2:g.103590125C>T GRCh38
NC_000014.8:g.104056462C>T , CM000676.1:g.104056462C>T GRCh37
NC_000014.7:g.103126215C>T NCBI36
NG_041786.1:g.32169C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001370595.2:c.477-56C>T (COA8) MANE Select NP_001357524.1:n.477-56C>T
ENST00000409074.8:c.477-56C>T (COA8) MANE Select ENSP00000386485.3:n.477-56C>T
NM_001302652.1:c.516-58C>T (COA8) NP_001289581.1:n.516-58C>T
NM_001302652.2:c.477-58C>T (COA8) NP_001289581.2:n.477-58C>T
NM_001302653.1:c.*31-56C>T (COA8) NP_001289582.1:n.*31-56C>T
NM_001302653.2:c.*31-56C>T (COA8) NP_001289582.2:n.*31-56C>T
NM_032374.4:c.516-56C>T (COA8) NP_115750.2:n.516-56C>T
NR_126431.1:n.687-56C>T (COA8)
NR_126431.2:n.684-56C>T (COA8)
NR_126432.1:n.458-56C>T (COA8)
NR_126432.2:n.455-56C>T (COA8)
ENST00000409074.6:c.516-56C>T (COA8) ENSP00000386485.2:n.516-56C>T
ENST00000440963.1:c.252-56C>T (COA8) ENSP00000388067.1:n.252-56C>T
ENST00000440963.2:c.*74-56C>T (COA8) ENSP00000388067.2:n.*74-56C>T
ENST00000458117.5:c.436-56C>T (COA8)
ENST00000458117.6:c.*74-56C>T (COA8) ENSP00000408525.2:n.*74-56C>T
ENST00000472726.2:c.515+2761C>T ENSP00000439065.1:n.515+2761C>T
ENST00000472726.3:c.476+2761C>T ENSP00000439065.2:n.476+2761C>T
ENST00000473127.5:c.63-56C>T (COA8) ENSP00000489380.1:n.63-56C>T
ENST00000474271.1:n.220+2761C>T (COA8)
ENST00000476323.5:c.113-56C>T (COA8) ENSP00000489047.1:n.113-56C>T
ENST00000477116.5:c.63-56C>T (COA8) ENSP00000489152.1:n.63-56C>T
ENST00000489117.5:c.591-56C>T (COA8) ENSP00000451788.1:n.591-56C>T
ENST00000492189.5:c.63-56C>T (COA8) ENSP00000489557.1:n.63-56C>T
ENST00000555660.5:c.280-56C>T (COA8)
ENST00000556253.6:c.*31-56C>T (COA8) ENSP00000451874.2:n.*31-56C>T
ENST00000557079.1:n.283-56C>T (COA8)
ENST00000557172.5:c.-2+28141C>T (KLC1) ENSP00000450786.1:n.-2+28141C>T
ENST00000674165.1:c.516-56C>T (COA8) ENSP00000501341.1:n.516-56C>T