Canonical Allele Identifier: CA2590066779
Gene: ABCA17P HGNC NCBI

Linked Data

dbSNP Id: rs2093760412
gnomAD v3: 16-2340834-G-C
gnomAD v4: 16-2340834-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340834G>C , CM000678.2:g.2340834G>C GRCh38
NC_000016.9:g.2390835G>C , CM000678.1:g.2390835G>C GRCh37
NC_000016.8:g.2330836G>C NCBI36
NG_011790.1:g.4913C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000640929.1:n.42+1503G>C
ENST00000512848.5:n.182+1503G>C
Search 100 bp 5'
Search 100 bp 3'