Canonical Allele Identifier: CA616424921

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.103574188A>T , CM000676.2:g.103574188A>T GRCh38
NC_000014.8:g.104040525A>T , CM000676.1:g.104040525A>T GRCh37
NC_000014.7:g.103110278A>T NCBI36
NG_041786.1:g.16232A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409074.8:c.385+18A>T (COA8) MANE Select ENSP00000386485.3:n.385+18A>T
ENST00000440963.2:c.123+11064A>T (COA8) ENSP00000388067.2:n.123+11064A>T
ENST00000458117.6:c.321+2368A>T (COA8) ENSP00000408525.2:n.321+2368A>T
ENST00000472726.3:c.385+18A>T ENSP00000439065.2:n.385+18A>T
ENST00000674165.1:c.424+18A>T (COA8) ENSP00000501341.1:n.424+18A>T
ENST00000409074.6:c.424+18A>T (COA8) ENSP00000386485.2:n.424+18A>T
ENST00000440963.1:c.160+11064A>T (COA8) ENSP00000388067.1:n.160+11064A>T
ENST00000458117.5:c.344+2368A>T (COA8)
ENST00000472726.2:c.424+18A>T ENSP00000439065.1:n.424+18A>T
ENST00000473127.5:c.-30+2368A>T (COA8) ENSP00000489380.1:n.-30+2368A>T
ENST00000474271.1:n.129+18A>T (COA8)
ENST00000476323.5:c.-30+2368A>T (COA8) ENSP00000489047.1:n.-30+2368A>T
ENST00000477116.5:c.-30+18A>T (COA8) ENSP00000489152.1:n.-30+18A>T
ENST00000489117.5:c.499+18A>T (COA8) ENSP00000451788.1:n.499+18A>T
ENST00000492189.5:c.-30+10805A>T (COA8) ENSP00000489557.1:n.-30+10805A>T
ENST00000495778.1:c.310+18A>T (COA8) ENSP00000451703.1:n.310+18A>T
ENST00000497901.5:n.351+18A>T (COA8)
ENST00000554625.5:n.423A>T (COA8)
ENST00000554876.5:c.217+18A>T (COA8) ENSP00000489308.1:n.217+18A>T
ENST00000555660.5:c.67+2368A>T (COA8)
ENST00000556253.6:c.385+18A>T (COA8) ENSP00000451874.2:n.385+18A>T
ENST00000557172.5:c.-2+12204A>T (KLC1) ENSP00000450786.1:n.-2+12204A>T
NM_001302652.1:c.424+18A>T (COA8) NP_001289581.1:n.424+18A>T
NM_001302653.1:c.424+18A>T (COA8) NP_001289582.1:n.424+18A>T
NM_001302654.1:c.424+18A>T (COA8) NP_001289583.1:n.424+18A>T
NM_032374.4:c.424+18A>T (COA8) NP_115750.2:n.424+18A>T
NR_126431.1:n.595+18A>T (COA8)
NR_126432.1:n.366+2368A>T (COA8)
NM_001302652.2:c.385+18A>T (COA8) NP_001289581.2:n.385+18A>T
NM_001302653.2:c.385+18A>T (COA8) NP_001289582.2:n.385+18A>T
NM_001302654.2:c.385+18A>T (COA8) NP_001289583.2:n.385+18A>T
NM_001370595.2:c.385+18A>T (COA8) MANE Select NP_001357524.1:n.385+18A>T
NR_126431.2:n.592+18A>T (COA8)
NR_126432.2:n.363+2368A>T (COA8)