Canonical Allele Identifier: CA7365480
Community Standard Title: NM_001370595.2(COA8):c.224A>G (p.Asn75Ser)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.103571723A>G , CM000676.2:g.103571723A>G GRCh38
NC_000014.8:g.104038060A>G , CM000676.1:g.104038060A>G GRCh37
NC_000014.7:g.103107813A>G NCBI36
NG_041786.1:g.13767A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001370595.2:c.224A>G (COA8) MANE Select NP_001357524.1:p.Asn75Ser
ENST00000409074.8:c.224A>G (COA8) MANE Select ENSP00000386485.3:p.Asn75Ser
NM_001302652.1:c.263A>G (COA8) NP_001289581.1:p.Asn88Ser
NM_001302652.2:c.224A>G (COA8) NP_001289581.2:p.Asn75Ser
NM_001302653.1:c.263A>G (COA8) NP_001289582.1:p.Asn88Ser
NM_001302653.2:c.224A>G (COA8) NP_001289582.2:p.Asn75Ser
NM_001302654.1:c.263A>G (COA8) NP_001289583.1:p.Asn88Ser
NM_001302654.2:c.224A>G (COA8) NP_001289583.2:p.Asn75Ser
NM_032374.4:c.263A>G (COA8) NP_115750.2:p.Asn88Ser
NR_126431.1:n.434A>G (COA8)
NR_126431.2:n.431A>G (COA8)
NR_126432.1:n.269A>G (COA8)
NR_126432.2:n.266A>G (COA8)
ENST00000409074.6:c.263A>G (COA8) ENSP00000386485.2:p.Asn88Ser
ENST00000440963.1:c.160+8599A>G (COA8) ENSP00000388067.1:n.160+8599A>G
ENST00000440963.2:c.123+8599A>G (COA8) ENSP00000388067.2:n.123+8599A>G
ENST00000458117.5:c.247A>G (COA8)
ENST00000458117.6:c.224A>G (COA8) ENSP00000408525.2:p.Asn75Ser
ENST00000472726.2:c.263A>G ENSP00000439065.1:p.Asn88Ser
ENST00000472726.3:c.224A>G ENSP00000439065.2:p.Asn75Ser
ENST00000473127.5:c.-127A>G (COA8) ENSP00000489380.1:n.-127A>G
ENST00000476323.5:c.-127A>G (COA8) ENSP00000489047.1:n.-127A>G
ENST00000477116.5:c.-191A>G (COA8) ENSP00000489152.1:n.-191A>G
ENST00000489117.5:c.338A>G (COA8) ENSP00000451788.1:n.338A>G
ENST00000492189.5:c.-30+8340A>G (COA8) ENSP00000489557.1:n.-30+8340A>G
ENST00000495778.1:c.149A>G (COA8) ENSP00000451703.1:p.Asn50Ser
ENST00000497901.5:n.190A>G (COA8)
ENST00000554625.5:n.244A>G (COA8)
ENST00000554876.5:c.56A>G (COA8) ENSP00000489308.1:p.Asn19Ser
ENST00000556253.6:c.224A>G (COA8) ENSP00000451874.2:p.Asn75Ser
ENST00000557172.5:c.-2+9739A>G (KLC1) ENSP00000450786.1:n.-2+9739A>G
ENST00000674165.1:c.263A>G (COA8) ENSP00000501341.1:p.Asn88Ser