Canonical Allele Identifier: CA2202178832
Gene: ABCA17P HGNC NCBI

Linked Data

dbSNP Id: rs916319936
gnomAD v4: 16-2340815-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340815A>G , CM000678.2:g.2340815A>G GRCh38
NC_000016.9:g.2390816A>G , CM000678.1:g.2390816A>G GRCh37
NC_000016.8:g.2330817A>G NCBI36
NG_011790.1:g.4932T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000640929.1:n.42+1484A>G
ENST00000512848.5:n.182+1484A>G