Canonical Allele Identifier: CA719188653
Gene: ABCA17P HGNC NCBI

Linked Data

dbSNP Id: rs1159069847
gnomAD v3: 16-2340915-G-T
gnomAD v4: 16-2340915-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340915G>T , CM000678.2:g.2340915G>T GRCh38
NC_000016.9:g.2390916G>T , CM000678.1:g.2390916G>T GRCh37
NC_000016.8:g.2330917G>T NCBI36
NG_011790.1:g.4832C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000640929.1:n.42+1584G>T
ENST00000512848.5:n.182+1584G>T