Canonical Allele Identifier: CA2631192853
Gene: ABCA17P HGNC NCBI

Linked Data

gnomAD v4: 16-2340851-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340851C>T , CM000678.2:g.2340851C>T GRCh38
NC_000016.9:g.2390852C>T , CM000678.1:g.2390852C>T GRCh37
NC_000016.8:g.2330853C>T NCBI36
NG_011790.1:g.4896G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000640929.1:n.42+1520C>T
ENST00000512848.5:n.182+1520C>T