Canonical Allele Identifier: CA2202178853
Gene: ABCA17P HGNC NCBI

Linked Data

dbSNP Id: rs2093760412
gnomAD v4: 16-2340834-G-A

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000640929.1:n.42+1503G>A
ENST00000512848.5:n.182+1503G>A