Canonical Allele Identifier: CA2631192885
Gene: ABCA17P HGNC NCBI

Linked Data

gnomAD v4: 16-2340893-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340893C>T , CM000678.2:g.2340893C>T GRCh38
NC_000016.9:g.2390894C>T , CM000678.1:g.2390894C>T GRCh37
NC_000016.8:g.2330895C>T NCBI36
NG_011790.1:g.4854G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000640929.1:n.42+1562C>T
ENST00000512848.5:n.182+1562C>T
Search 100 bp 5'
Search 100 bp 3'