Canonical Allele Identifier: CA2202178842
Gene: ABCA17P HGNC NCBI

Linked Data

dbSNP Id: rs2093760361
gnomAD v4: 16-2340821-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340821G>A , CM000678.2:g.2340821G>A GRCh38
NC_000016.9:g.2390822G>A , CM000678.1:g.2390822G>A GRCh37
NC_000016.8:g.2330823G>A NCBI36
NG_011790.1:g.4926C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000640929.1:n.42+1490G>A
ENST00000512848.5:n.182+1490G>A