Canonical Allele Identifier: CA170867
Community Standard Title: NM_001370595.2(COA8):c.124-1G>A

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.103571622G>A , CM000676.2:g.103571622G>A GRCh38
NC_000014.8:g.104037959G>A , CM000676.1:g.104037959G>A GRCh37
NC_000014.7:g.103107712G>A NCBI36
NG_041786.1:g.13666G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001370595.2:c.124-1G>A (COA8) MANE Select NP_001357524.1:n.124-1G>A
ENST00000409074.8:c.124-1G>A (COA8) MANE Select ENSP00000386485.3:n.124-1G>A
NM_001302652.1:c.163-1G>A (COA8) NP_001289581.1:n.163-1G>A
NM_001302652.2:c.124-1G>A (COA8) NP_001289581.2:n.124-1G>A
NM_001302653.1:c.163-1G>A (COA8) NP_001289582.1:n.163-1G>A
NM_001302653.2:c.124-1G>A (COA8) NP_001289582.2:n.124-1G>A
NM_001302654.1:c.163-1G>A (COA8) NP_001289583.1:n.163-1G>A
NM_001302654.2:c.124-1G>A (COA8) NP_001289583.2:n.124-1G>A
NM_032374.4:c.163-1G>A (COA8) NP_115750.2:n.163-1G>A
NR_126431.1:n.334-1G>A (COA8)
NR_126431.2:n.331-1G>A (COA8)
NR_126432.1:n.169-1G>A (COA8)
NR_126432.2:n.166-1G>A (COA8)
ENST00000409074.6:c.163-1G>A (COA8) ENSP00000386485.2:n.163-1G>A
ENST00000440963.1:c.160+8498G>A (COA8) ENSP00000388067.1:n.160+8498G>A
ENST00000440963.2:c.123+8498G>A (COA8) ENSP00000388067.2:n.123+8498G>A
ENST00000458117.5:c.147-1G>A (COA8)
ENST00000458117.6:c.124-1G>A (COA8) ENSP00000408525.2:n.124-1G>A
ENST00000472726.2:c.163-1G>A ENSP00000439065.1:n.163-1G>A
ENST00000472726.3:c.124-1G>A ENSP00000439065.2:n.124-1G>A
ENST00000473127.5:c.-227-1G>A (COA8) ENSP00000489380.1:n.-227-1G>A
ENST00000476323.5:c.-227-1G>A (COA8) ENSP00000489047.1:n.-227-1G>A
ENST00000477116.5:c.-291-1G>A (COA8) ENSP00000489152.1:n.-291-1G>A
ENST00000489117.5:c.238-1G>A (COA8) ENSP00000451788.1:n.238-1G>A
ENST00000492189.5:c.-30+8239G>A (COA8) ENSP00000489557.1:n.-30+8239G>A
ENST00000495778.1:c.49-1G>A (COA8) ENSP00000451703.1:n.49-1G>A
ENST00000497901.5:n.90-1G>A (COA8)
ENST00000554625.5:n.144-1G>A (COA8)
ENST00000556253.6:c.124-1G>A (COA8) ENSP00000451874.2:n.124-1G>A
ENST00000557172.5:c.-2+9638G>A (KLC1) ENSP00000450786.1:n.-2+9638G>A
ENST00000674165.1:c.163-1G>A (COA8) ENSP00000501341.1:n.163-1G>A