Canonical Allele Identifier: CA620708667
Gene: ABCA17P HGNC NCBI

Linked Data

gnomAD v2: 16-2390897-A-G
gnomAD v3: 16-2340896-A-G
gnomAD v4: 16-2340896-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340896A>G , CM000678.2:g.2340896A>G GRCh38
NC_000016.9:g.2390897A>G , CM000678.1:g.2390897A>G GRCh37
NC_000016.8:g.2330898A>G NCBI36
NG_011790.1:g.4851T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000640929.1:n.42+1565A>G
ENST00000512848.5:n.182+1565A>G